LABORATORY HANDBOOK - Sheffield Children's …...We have an established quality management system...

CAEC Registration Identifier: 1043 Sheffield Children’s (NHS) Foundation Trust

Laboratory Handbook

QPulse Document Reference: 999-0018 Approved by: Prof J R Bonham Author: Laboratory Handbook Group Date of Issue: April 2019 Review date: March 2020 © SC(NHS)FT 2017. Page 1 of 184

LABORATORY HANDBOOK

APRIL 2019 EDITION

Reference: CAEC Registration I.D. No. 1043

Written by: Laboratory Handbook Group

Peer reviewer: Prof J R Bonham

Approved: February 2019

Review Due: March 2020 (do not use this edition after this date)

Purpose

This handbook gives pre-analytical information and guidance to laboratory service users when requesting tests and includes:

Details of services provided

Laboratory contact details and opening hours

Details of phlebotomy services

Instructions for completing sample and request form information

Arrangements for transporting samples to the laboratories

Point of care testing

Test table of analyses provided including details of specific sample requirements

Intended Audience

All users of laboratory services at Sheffield Childrens NHS Foundation Trust


Laboratory Handbook



Laboratory Handbook


Contents

GENERAL INFORMATION 5 INTRODUCTION 5 INTENDED AUDIENCE 5 REFERENCES 5 DIVISION CONTACT DETAILS 8 PHLEBOTOMY SERVICES 8 SPECIMEN COLLECTION BY CLINICAL STAFF 10 PHLEBOTOMY AND PATIENT IDENTIFICATION 10 THE COMPLETION OF REQUEST FORMS 12 PROTECTION OF PERSONAL DATA AND INFORMATION 14 LABELLING OF PATHOLOGICAL SAMPLES 14 PACKAGING SAMPLES 16 SAMPLE TRANSPORTATION 17 REPORTS 19 UNCERTAINTY OF MEASUREMENT 21 POINT OF CARE TESTING 21 RELATED LABORATORY SERVICES IN SHEFFIELD 27

CLINICAL CHEMISTRY 31 LOCATION OF DEPARTMENT 31 CONTACT DETAILS 31 LABORATORY OPENING TIMES 32 SERVICES PROVIDED 32 SPECIALISED BIOCHEMICAL SERVICES 33 URGENT REQUESTS 37 REQUESTING ADDITIONAL INVESTIGATIONS 39 LIMITATIONS OF RESULTS 40 CONSENT 40 REFERENCE RANGES 40

DEPARTMENT OF PAEDIATRIC HAEMATOLOGY AND BLOOD BANK 61 LOCATION OF DEPARTMENT 61 CONTACT DETAILS 61 ENQUIRIES 62 LABORATORY OPENING TIMES 62 SERVICES PROVIDED 62 URGENT REQUESTS 66 REQUESTING ADDITIONAL INVESTIGATIONS 68 LIMITATIONS OF RESULTS 68


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REFERENCE RANGES 69

HISTOPATHOLOGY DEPARTMENT 70 LOCATION OF DEPARTMENT 70 CONTACT DETAILS 70 LABORATORY OPENING TIMES 70 OTHER INVESTIGATIONS 72 URGENT REQUESTS 75 LIMITATIONS OF RESULTS 76 TURNAROUND TIMES 76

SHEFFIELD DIAGNOSTIC GENETICS SERVICE 78 LOCATION OF THE DEPARTMENT 78 CONTACT DETAILS 78 ENQUIRIES AND RESULTS 78 LABORATORY OPENING TIMES 79 SERVICES PROVIDED 79 URGENT REQUESTS 82 REQUESTING ADDITIONAL INVESTIGATIONS 83 LIMITATION OF RESULTS 83 CONSENT 84

ARRANGEMENTS FOR MICROBIOLOGY, VIROLOGY AND IMMUNOLOGY 87

MICROBIOLOGY 87

ANTIBIOTIC ASSAYS 89 VIROLOGY SERVICES 91 IMMUNOLOGY SERVICES 93 CSF SAMPLES 94

SPECIMEN CONTAINERS 97

A-Z LABORATORY TEST/CONDITIONS LIST 100


Laboratory Handbook


GENERAL INFORMATION

INTRODUCTION The Diagnostic Pathology Laboratories form part of the Division of Pharmacy, Diagnostics and Genetics at Sheffield Children’s NHS Foundation Trust. There are four laboratory specialities (listed below) and a mortuary service.

Clinical Chemistry

Haematology and Blood Bank

Histopathology and Mortuary

Sheffield Diagnostic Genetics Service This handbook has been prepared following consultation with users of laboratory services to give pre-analytical information and guidance to laboratory service users when requesting tests. Any comments or suggestions for improvement should be directed to the Laboratory Quality Manager.

INTENDED AUDIENCE This handbook is for the use of all users of laboratory services at Sheffield Childrens Hospital. This edition of the handbook should not be used after the stated review date. Before requesting tests, regard should also be given to Asher’s Criteria (BMJ 1954, ii-460)

1. Why am I ordering this test? 2. What am I going to look for in the result? 3. If I find it, will it affect my diagnosis? 4. How will this affect my management of the case? 5. Will this ultimately benefit the patient?

REFERENCES In addition to the information provided in this handbook the Trust provides Clinical and Medical guidelines for use within SC(NHS)FT. These are available on the Trust intranet G

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http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/cec/index.asp http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/pages/guidelines.htm

QUALITY Quality Commitment Provided that the guidelines as detailed in this handbook are followed all service users, including referring laboratories, can expect a commitment to continued quality from the Diagnostic Pathology Laboratories for all work and services that are provided on their behalf. The Diagnostic Pathology Laboratories will also proactively engage with service users and institutions that refer tests and will notify them of any significant issues or changes (including issues with EQA performance and turnaround times) that can affect results or interpretations that are given to them or that may impact on patient management and care. External Quality Assessment and Laboratory Accreditation We have an established quality management system and all our laboratories participate in regular audit and external quality assessment schemes such as the United Kingdom Accreditation Service (UKAS) for ISO15189, Medicines and Healthcare products Regulatory Agency (MHRA), the Human Tissue Authority (HTA) and the Joint Accreditation Committee-ISCT (Europe) & EBMT (JACIE). ISO 15189:2012 which is an international standard which specifies the requirements for quality and competence for medical laboratories. The ISO15189 standard has replaced the Clinical Pathology Accreditation (CPA) standards, which our laboratories were accredited to since their introduction in 1996. The accreditation process involves annual visits by the United Kingdom Accreditation Service (UKAS) to ensure compliance against the standard. Accreditation provides assurance to users of the Laboratory Medicine service that we are providing the best quality service. A full list of all accredited tests provided by our laboratories are detailed in their Schedule of Accreditation. Each Schedule of Accreditation can be viewed by entering the UKAS Reference Number in the search field at the link below:

https://www.ukas.com/search-accredited-organisations

http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/cec/index.asp

http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/cec/index.asp

http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/pages/guidelines.htm

http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/pages/guidelines.htm

https://www.ukas.com/search-accredited-organisations


Laboratory Handbook


Laboratory UKAS Reference

Clinical Chemistry 10139

Haematology 8091

Histopathology 8093

Sheffield Diagnostics Genetics Service 8652

Some tests provided by our laboratories are not included within the Schedule of Accreditation. These tests are managed within the Laboratory Quality Management System. If further information is required please contact the laboratory via the contact details in their section of this handbook. Further information can be found on the UKAS website http://www.ukas.com Quality Assurance All our laboratories participate in national external quality assurance schemes to monitor the accuracy and precision of its analyses. Internal quality control is used to check the validity of results on a day-to-day basis. Quality Indicators The laboratories have established a selection of key quality indicators to monitor and evaluate performance throughout critical aspects of pre-examination, examination and post-examination processes. Primarily we monitor these quality indicators to evaluate the laboratory’s contribution to patient care. This monitoring process is planned, which includes establishing the objectives, methodology, interpretation, limits, action plan and duration of measurement. To ensure their continued appropriateness, we review the quality indicators at least annually as part of our Laboratory Annual Management Review pro cess. Quality Concerns and Complaints If you have any issues about the quality of service you receive please contact the Laboratory Quality Manager, the appropriate Laboratory Manager, the Associate Director or a Clinical Director. Contact names and numbers are given in the Contact Details sections of this handbook. Alternatively health professional service users who wish to make any comments or suggestions may use the feedback form on the Trust website

https://www.sheffieldchildrens.nhs.uk/laboratory-medicine/ G

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http://www.cpa-uk.co.uk/

https://www.sheffieldchildrens.nhs.uk/laboratory-medicine/


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DIVISION CONTACT DETAILS Sheffield Children’s Hospital Hospital switchboard 0114 271 7000 Diagnostic Pathology Laboratories Clinical Directors Prof Ann Dalton Ext 17004 Prof Jim Bonham Ext 53831 Associate Director Sara Elliott Ext 53615 Laboratory Quality Manager Karen Bennett Ext 17240

Laboratory Deputy Quality Manager Magdalena Burgess

Ext 53885

Laboratory Quality Assistant Catherine Bounekhla

Ext 53884

Division IT Manager Paul Sharman-Armitage

Ext 53064

PHLEBOTOMY SERVICES A phlebotomy service is provided for capaillary blood sample collection on the wards. 1. Collection of capillary blood samples on wards Samples are collected by laboratory staff according to the following schedule.

VENUE DEPT RESPONSIBLE COLLECTION TIME (Monday to Friday)

Children’s Wards

Clinical Chemistry & Haematology

09.30

Children’s Wards (NSU, HDU & ICU only)

Clinical Chemistry 13:30

N.B. On Saturdays, Sundays and bank holidays a collection at 09:30 is made at the Children’s Hospital for urgent Clinical Chemistry and Haematology requests. Laboratory staff are unable to carry out capillary

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collections at any other time, and venous samples will therefore be required if request forms are not left out for this round before 9 am. It is important that request forms are written up before these rounds commence or phlebotomy requests may be missed. The weekday 09:30 round is carried out by a team of 4 staff. The other rounds (including the weekend rounds) are carried out by a maximum of 2 staff, and therefore requests should be limited to emergencies and new admissions only. Outside these times the laboratories can only respond to urgent requests depending on staff availability. It is the requester’s responsibility to consider the impact and safety of the patient on the volume of blood withdrawn by phlebotomy. Please be aware that the amount of blood collected is always matched to the tests or profiles requested. It therefore may not be possible to add on extra tests by subsequently phoning the laboratory. Microbiology samples e.g. gentamycins etc will be collected by capillary only if they coincide with the scheduled ward rounds. All Microbiology requests are now analysed at the NGH. 2. Thumb Prick Sample Collection for Blood group and Save Serum/Cross Match Blood Bank testing of capillary samples is carried out provided the following are observed. Exceptions may be discussed with the Consultant Haematologist.

1. Patient must be aged eight years old or under. 2. The patient’s expected potential requirement for blood must be one unit

or under. 3. The patient must have a fully completed and signed blood bank request

form. 4. Collection of blood for other tests at the same time is limited to a FBC.

Deferring tests for later occasions may be considered after discussion with parents and ourselves.

5. Should serological problems be encountered a venous blood sample will be needed urgently.

6. Performing a group and save while the patient is an out patient is to be encouraged. It will forewarn of problems before admission.

7. 1ml EDTA sample should be obtained

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SPECIMEN COLLECTION BY CLINICAL STAFF Clinical staff are responsible for collecting blood samples themselves in the following instances.

1. If laboratory staff are not available 2. If venous or arterial blood samples are required 3. If samples are required from patients who are distressed, who carry

serious risk of infection or who refuse a capillary sample 4. Any circumstances where procedures other than straightforward

capillary blood collection might be involved 5. If checking a high or low potassium result (Venous or arterial blood

required)

Blood Sampling from Lines and Catheters Samples collected from lines are often contaminated with the stagnant or infused fluid in the line. The results of tests may be so extreme as to be obviously in error. Contamination of a lesser degree is more likely and may be impossible to spot. Skin Biopsies Requests for skin biopsy cultured fibroblasts from SCH patients must be accompanied by a consent form. Guidelines for sample collection and consent forms are available on request (contact Dr Simon Olpin or Joanne Croft on 0114 271 7267 (answer phone) [email protected].) For further information and details of arrangements for skin biopsy requests from external hospitals please refer to the Skin Biopsies section on page 31 of this handbook.

PHLEBOTOMY AND PATIENT IDENTIFICATION When taking blood or any other pathological samples the instructions provided in sections 3.1, 4.2 and 4.4 of the Trust’s Patient Identification Policy must be observed. Laboratory personnel who take capillary blood samples from in-patients follow the procedure given below. It is equally applicable to other staff groups who take pathological samples.

mailto:[email protected]


Laboratory Handbook


Specimen containers should not be labelled in advance of receiving the specimen.

At the bedside, obtain the patient’s name and date of birth by asking the patient/parent carer to state it (do not merely get confirmation of a name you state). Check this information is compatible with the patient identification band on wrist or ankle.

If the patient is unable to tell you their name, refer to the identification band and, if possible verify the information by asking the parents/carer or another member of the clinical staff who knows the patient.

If the patient is unable to tell you and they do not have an identification band, ask the patient’s parent/carer if present or another member of the (clinical staff who knows the patient to identify the patient by name, and date of birth). An identification band should then be generated and secured to the patient as soon as possible. Collection cannot go ahead if the band is absent, and phlebotomists are not obliged to wait until this is completed.

Check that the details on the identification band match the details given with those provided on the request form.

The patient must not be bled in the absence of a request form or an alternate agreed test request arrangement.

Proceed with the collection if all is correct. Note: For patients who cannot wear identification bands on wrist or ankle it is acceptable to have the band pinned to their clothing. Collection cannot go ahead if the band is absent.

Once the specimen is received into the container, the patients identification band must be re-checked before completing the details on the container to ensure the correct details are matched to this specimen.

The absence of an identification band, or the presence of conflicting details on the band and request form, are considered as breaches of Trust policy. Incidents of this nature should be referred to the Ward Manager and the patient must not be bled.

The sample must be labelled at the bedside. This is Trust policy and is audited.

Sample and request form information must relate to the person from whom the sample was taken. Samples labelled with ‘mother of’, ‘father of’ or ‘baby of’ etc will not be accepted. The only exceptions to this are solid tissue samples for pre-natal cytogenetic analysis, and fetuses up to 18 weeks gestation that are for post mortem examination.

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THE COMPLETION OF REQUEST FORMS All request forms must contain a minimum of the following essential information:

1. Full name (initials will be classed as missing information) 2. DoB (age only will be classed as missing information) 3. At least one of the following

Hospital number

A/E or Major Incident Number

NHS number.

Clinical Genetics Family ID 4. Name of the requesting consultant (initials or full name) or location

(ward/department) to which results are to be sent. 5. Test required. 6. Blood Bank request forms must also include details of any special

requirements the patient may have i.e. irradiated (see back of request form), or details of any underlying conditions that mean the patient could need special products (see back of request form), and state if the patient is pregnant. Details of any recent transfusions (including those performed elsewhere) are also required.

The following information is also highly desirable

7. Name of the person collecting/obtaining the sample. 8. Date & time sample(s) taken (where relevant) 9. Sample type 10. Clinical details (full and appropriate clinical details including

circumstances that may increase the risk of infection e.g. relevant travel history must be included)

11. Patient’s address including postcode 12. Patient’s sex 13. Clinician’s bleep number

Clinical details and the patient’s age are particularly important in paediatric requesting so that laboratory staff may:

1. Understand the reason for the request 2. Interpret the results 3. Consider the need for further investigations 4. Advise and assist the clinical staff concerning the results obtained.


Laboratory Handbook


Additional information may be appropriate for specialised metabolic. toxicological or blood bank requests. It is the responsibility of the requestor to ensure that a completed laboratory request form accompanies every sample for which an analysis is required. The only exemptions to this rule are:

1. When more than one tube is required to provide sufficient sample for the test.

2. Routine Newborn screening where a completed Guthrie card is sufficient Please use the correct request form specified as follows: Green Clinical Chemistry request form

SCH requests for Clinical Chemistry

Pink Haematology request form

SCH requests for Haematology (NOT for Blood Bank – see below)

White Blood Bank request form

Essential for requests for group, group and save serum, group and cross-match, DCT

Yellow Histopathology request form

SCH requests for Histopathology (except Gastrointestinal Biopsies - see below)

White A4 Gastrointestinal Biopsies request form

SCH requests for Gastrointestinal Biopsies (Histopathology) only

Blue Microbiology, Immunology, Virology request form

SCH requests for Microbiology, Immunology and Virology

Sheffield Diagnostics Genetics Service request form

Requests for Sheffield Diagnostics Genetics Service tests (request form is available from the Trust website https://www.sheffieldchildrens.nhs.uk/sdgs/)

If exceptional circumstances dictate that a test request is made verbally or by letter, then this request must be followed by a completed request form within 7 days.

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High Risk Samples Medical staff must also indicate on the request form if the sample to be sent to the laboratory might carry a risk of Category 3 infection (using the yellow Cat 3 labels on both the request form and sample). An indication should also be made on the form if the patient has a communicable disease such as rubella, for the protection of any laboratory staff who might attend the patient. Please alert the histopathology laboratory prior to sending any high risk samples to them if possible. Such samples must be placed in 10% formalin and transported to the laboratory by hand. The request form for these samples must also identify the biohazard within the clinical details. Samples for other reference labs related to the same case, should be sent directly to the appropriate laboratory.

PROTECTION OF PERSONAL DATA AND INFORMATION Personal data and information on request forms is required in order for the laboratories to operate and may be stored on laboratory computer files. The intent of the laboratories is to ensure that any personal data and information is treated lawfully and in accordance with the NHS requirements concerning confidentiality and information security standards. To this end we fully endorse and adhere to the Trust Data Protection Policy, the requirements of which are primarily based upon the Data Protection Act 1998 which is the key piece of legislation covering security and confidentiality of personal information.

LABELLING OF PATHOLOGICAL SAMPLES When collecting and labelling samples, the criteria for patient identification (outlined earlier) must be followed. Sample and request form information must also be compatible. Samples will only be accepted for analysis if minimum criteria are met. This responsibility lies with the person collecting the sample. Failure to meet these requirements may result in the sample being rejected. Minimum Criteria As defined by laboratory policy all pathological samples sent to the laboratory must contain a minimum of the following information:

1. Surname /family name


Laboratory Handbook


2. Forename (or Baby, Twin One/Two, Triplet One/Two/Three etc, if forenames have not been given. Initials will be classed as missing information)

3. At least one of the following

Date of birth (age only will be classed as missing information)

Hospital registration number

A/E or Major Incident Number

NHS number The Clinical Genetics Family ID number must also be present on samples sent from Clinical Genetics And ideally for samples being tested for patient monitoring purposes the following should also be included.

Date sample taken

Sample type The ‘ward’ space on bottle labels may be used to write the hospital/A/E/NHS number , ward is not required. All samples for Blood Bank must contain a minimum of the following information:

1. Surname /family name 2. Forename (or Baby, Twin One/Two, Triplet One/Two/Three, etc, if

forenames have not been given. Initials will be classed as missing information)

3. Date of birth (age only will be classed as missing information) 4. Any of the following

Hospital registration number

A/E or Major Incident number

NHS number And ideally blood transfusion samples should be signed/initialled by the primary sample taker. N.B. When cross matching for infants up to 6 months of age the laboratory prefers to use maternal plasma in addition to the baby sample. Maternal samples must be labelled with the mother’s surname, forename and DoB. Such samples must not be labelled with the child’s hospital number. Ideally all samples should be labelled by hand. The use of addressograph labels for labelling blood samples is not encouraged (especially for small

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sample bottles), and blood samples for Blood Bank shall not be accepted if they are labelled as such. However it is acceptable to use addressograph labels for the larger urine and faeces samples. If addressograph labels are used, it is the responsibility of the sending service user to ensure that the contents of the sample container match the patient ID. In the event of an unconscious child being admitted via A&E, laboratory staff will accept a sample clearly labelled with: A unique identifier i.e. A&E number/Major Incident Number, Child’s sex and approximate age. Laboratory staff are instructed not to amend details on either the sample or the request form. If you require further details of the sample acceptance policy please contact the laboratory.

PACKAGING SAMPLES In signing a request form the person making the request assumes responsibility under Section 7 of the Health and Safety at Work Act and must adhere to the following guidelines regarding the labelling and packaging of samples to minimise the danger of infection.

Every sample must be enclosed in a suitable, leak proof, primary container.

The sample must be contained in a transparent leak proof plastic transport bag.

Containers for large specimens, such as some Histopathology or 24-hour urine specimens, may be enclosed in individual clear plastic sacks, sealed to contain any leakage.

The request form must be separated from the specimen. Please place the specimen inside the plastic transport bag attached to the request form. For larger containers the request from should be securely taped to the outside of the transport sack containing the specimen.

The request form should not be attached to the sample container or be used as a sample label.

For Category 3 risk patients the requester must include full and appropriate clinical details and danger of infection labels on both request form and sample.

Any labels and stickers used must be self-adhesive.

Pins, staples, and heat sealed bags should not be used.

Plastic transport bags must not be re-used.


Laboratory Handbook


If any samples are to be transported by postal, courier or taxi service directly from the clinical area to locations outside the Trust, they must be packed and labelled according to the regulations for the transport of dangerous goods. Please contact the laboratory for details of this requirement. Specimens for transport by post should always be labelled as ‘First Class – Royal Mail only’.

SAMPLE TRANSPORTATION On-site specimen transport Primary sample transportation to SCH laboratories is the Pneumatic Tube System (PTS) and Stations are located in A&E, HDU, PICU, Ward 6, CF Unit, OPD, Ward 3, Ward 7, Theatres, Oncology/HaemOPD, Theatre Assessment unit, Ward 3, Ward 4, and Ward 5, Clinical Chemistry, Histopathology, Haematology and SDGS. Samples can be sent directly to all Pathology Laboratories from any of these stations. Copies of operating and breakdown instructions for the pneumatic tube system (PTS) can be found in each of these areas. Please ensure that the transport pods are properly closed, and do not attempt to send samples via the pneumatic tube system (PTS) unless they are in a pod. N.B Urgent frozen sections from theatre and specimens for histopathology that have a high risk of infection must not be sent via the pneumatic tube system (PTS). For transport of routine samples not suitable for the pneumatic tube system (PTS) there are also scheduled sample collection rounds of ward and clinic areas carried out by the Medical Laboratory Assistant (MLA) at the following times 09:00, (11:30 if the pneumatic tube system (PTS) is not working), 13:30 and 15:45 Monday - Friday. These rounds take about 15 minutes. All samples for collection must be properly packaged and left at the agreed point on each ward or clinic area. If there is visible leakage of the specimen prior to transport, this must be reported to the nurse in charge and it be requested that the specimen is placed in an additional sealed transport bag. Specimens fixed in formaldehyde should have the lid securely closed and contain sufficient formaldehyde to keep the sample moist during transit but to keep the risk of spillage to a minimum. They should have a formaldehyde hazard label attached to the outside of the container and be placed into a secondary leak proof bag. If there is leakage of formalin, the formalin spillage

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procedure must be followed; in these cases please contact the Histopathology Laboratory on 01142717264 for advice. Specimens can also be taken to the relevant laboratory during working hours and handed to a member of the laboratory staff. If an incident occurs during transit, it should be immediately reported to the laboratory and if necessary ask for assistance. Please note that urgent and fresh Histopathology samples must be taken by hand to the department and handed directly to a member of staff. Some samples will need special requirements for transport e.g. should be transported on ice, please refer to the test table of analyses at the back of this handbook for specific requirements. Samples suspected of biohazard category 4 organisms e.g. Ebola virus, viral hemorrhagic fever etc, must not be sent via the pneumatic tube system (PTS). Do not send the specimen to the laboratories. N.B. Health and safety regulations for on-site transport stipulate that when carrying specimens, staff must use secure specimen transport carriers. For occasions when the MLA is not utilised, it is the responsibility of the person carrying samples to the laboratory to ensure that samples are carried in the green sealable sample transport bag. Under no circumstances should anyone transport specimen containers in their hands or pockets. Transport of urgent samples

The pneumatic tube system (PTS) is the preferred mode of transport for urgent samples and for transporting samples out-of-hours, with the exception of Histopathology samples – see previous page. Urgent specimens must be arranged with the laboratory before dispatch. Do not merely write ‘Urgent’ on the request form and send. Sample transport arrangements during pneumatic tube system (PTS) failure In the event of pneumatic tube system (PTS) failurea member of the laboratory team will collect samples from the wards at the following tmes 09:00, 11:30, 13:30 and 15:45. Outside of these times it is the responsibility of the person taking the sample to ensure it reaches the appropriate laboratory.


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Transport of samples to STH A regular CampusLink taxi shuttle collects samples at 09:40, 11:10, 13:10, 14:40, 16:00, and 17:10 Mon-Fri from clinical chemistry for dispatch to the NGH and RHH laboratories; urgent samples in-between these times may also go via urgent-taxi. Outside routine working hours, scheduled couriers call into A&E reception at 17:30, 19:30 and 21:30 on week nights and at 08:30, 11:30, 14:30, 17:30, 19:30 and 21:30 at weekends and bank holidays. Please note that during routine hours (09:00 -17:00 weekdays) Immunology and tests referred to STH must be sent via the SCH Clinical Chemistry department. Also please ensure that when requests for CSF protein, glucose and lactate are required alongside requests for M, C & S, the CSF sample must not be sent to Microbiology. The CSF sample is tested at SCH, and the sample for M, C & S is tested at STH.

REPORTS Clinical Chemistry, Haematology, Blood Bank, Histopathology, STH Microbiology and STH Immunology Reports From April 2012 no printed reports will be sent out from Clinical Chemistry, Haematology, Blood Bank, Histopathology, Microbiology or Immunology, with the exception of post mortem reports, reports to external purchasers, dynamic function tests reports and reports for samples referred to external laboratories. Printed post mortem reports are sent to the appropriate requesting consultant/coroner, printed reports for other exceptions are delivered by hand to the wards and departments at approximately 09.15 and 15.45. Urgent reports will be telephoned if requested. The laboratory also has limits outside of which the results are telephoned automatically. Authorised Clinical Chemistry, Haematology, Blood Bank, Histopathology, Microbiology and Immunology results are electronically accessible via ward/office computers through the hospital network or directly from the PC desktop ‘ICE’ icon. Passwords can be obtained by contacting the ICE Administrator (Ext 53268) Using ICE desktop reporting. ICE is available on at least one PC terminal on each ward and should be used to access results prior to contacting the laboratory. The snowflake desktop icon is labelled “ICE desktop reporting.”

Upon clicking the ICE Desktop reporting icon a login screen is presented – click login

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Enter username and password (not case sensitive) and click login.

Select a ward/location from the list that represents where you are.

The system takes you straight to patient enquiry where a hospital number or name or DOB can be entered. Click on patient reports button in left panel. This query will always present all results available for that patient.

If you wish to view multiple patient reports by ward then click the View ward report icon within the left hand panel.

This will display only the 20 most recent reports for the default location. The display defaults to patient reports at the same location as your PC e.g. M3 or ICU however patient’s results at another location can be viewed from any workstation by selecting an alternative from the top left hand pull down list.

To view earlier reports click earlier reports. The default number of days of previous results in the Ward view is 7 days. This can be changed by the user or just keep clicking “earlier reports” to go back in time.

Cumulative report displays with graphical views are available and can be printed.

An online manual is available by clicking manuals in the left hand pane.

The colour of each report indicates the pathology specialty.

When leaving your workstation unattended please log off using log off button in the lower left hand panel.

The Laboratory handbook can be accessed by entering Resources.

Reports can be filtered by lab speciality and requesting clinician.

Filing of results is audited monthly to ensure reports are viewed and acted upon as appropriate.

Users are encouraged to notify the laboratory of patient duplicates or demographic inaccuracies. The quality of report demographics is dependant upon the quality of data we receive. Consistent use of the hospital number enables cumulative reports to be created and viewed. Genetics reports Genetics reports are sent by first class post, fax or email (by special arrangement). Urgent rapid prenatal results are faxed directly to the referring centres. HODS reports are transferred automatically from starlims to the HODs website. Results are available by phone and urgent results can be telephoned or faxed if requested.


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UNCERTAINTY OF MEASUREMENT In clinical laboratory testing there are potential “uncertainties” that can affect test results (for example; poor specimen collection or transport, patient related factors such as biological variation and the presence of drugs, or other interfering factors). In addition, the analytical process itself is subject to some degree of inherent variability and this is often referred to as the “reproducibility” or “imprecision” of the method. Laboratories regularly monitor this by the use of internal quality control samples within each batch of analysis and by comparing the results of external quality assurance schemes designed to ensure that results are comparable with others laboratories using similar methods. Despite these control measures it must be recognised that variation can occur and modestly differing sequential results may not always have clinical relevance. The relevance of a particular result or a change in value must be considered in light of both the reproducibility of the method and the biological variation within the patient. If in doubt concerning the significance of a result or a change in sequential results, a member of the laboratory or relevant clinical staff should be contacted and they can help guide interpretation. Providing relevant clinical details at the time that the request is made can also clarify the significance of a particular result or a change in results. Measurement uncertainty data for specific tests can be provided to service users upon request.

POINT OF CARE TESTING All POCT equipment is to be used by trained users only. The blood gas analysers situated on NSU, ICU and A&E procedure room are connected to Clinical Chemistry by computer link and are for the use of trained and certificated operators e.g. Anaesthetists/Doctors/Nurses/laboratory staff only. Training is arranged at induction: see contact details at the end of this section. Trust policy is that unique barcodes following training are issued to certified staff and must not be shared with others. Use of the analysers without certification or training, or the use of another operator’s barcode are disciplinary offences; constituting both clinical risk , and risk to this vital patient service. G

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Haemoglobin fractions, Electrolytes (Sodium, Potassium, Chloride, Ionised Calcium) and Metabolites (Glucose and Lactate) are available on each analyser.

Capillary, venous, and arterial samples for blood gas analysis should be transported using a cardboard tray along with a completed request form or patient addressograph label which acts as the source of patient identification to key into the analyser. Samples must be mixed thoroughly by rotation immediately after collection and prior to analysis to minimise clots and the sample separating. Avoid air bubbles.

Blood glucose testing is undertaken on the wards using Accu-chek Inform II dry chemistry hand held meters. An operator Identification

number is required to use this meter and is issued on successful completion of training and competency assessment. All patients being monitored for blood glucose should send a paired sample to the laboratory for analysis daily.

POCT glucose results less than or equal to 3.1 mmol/L must have a corroborative sample sent to the Clinical Chemistry laboratory in case of hypoglycaemia.

Urine Specific Gravity testing using the Atago refractometer is available on Ward 6. Staff must be trained and certificated before they use these meters.

Urine dipstick testing is performed by trained operators using the Clinitek Status plus analysers. A barcode is required to use this analyser and is issued upon successful completion of training and competency assessment.

Abbott Freestyle Optium H ketone meters are available on ITU/HDU, Ward 3, Ward 4, A&E/AAU and Ward 5. Staff must be trained and certified before using these instruments.


Laboratory Handbook


Test Specimen Type

Collection Type Tube Sample Volume

Notes / Comments

Blood Gas

Siemens RAPIDPoint®

500 Blood Gas Analyser

(A&E, ICU & NSU)

Whole blood

Arterial/Venous

Siemens RAPIDLyte

®

balanced heparin syringe (3ml)

800 µl (minimum fill volume)

Any air present must be expelled immediately after collection. Mix the sample as soon as possible after collection to distribute the heparin throughout the sample. Mix the anticoagulant thoroughly by rolling the syringe between your palms at least 20 times & gently inverting it several times. Take care to avoid warming the sample. Never analyse a clotted sample on the blood gas analyser.

Capillary

Balanced heparinised capillary (100 µl)

100 µl

Fill the tube completely & cap it with capillary closing caps. Mix the sample as soon as possible after collection to distribute the heparin throughout the sample & again just prior to analysis as a minimum.


Laboratory Handbook


Test Specimen Type


Notes / Comments

Glucose

Accu-Chek® Inform II

Glucose Meter

Whole blood

Venous, arterial, neonatal, & capillary whole blood from the finger. For neonatal patients the outer heel area may be used.

A fresh whole blood drop taken directly from the finger is the sample type of choice.

0.6 µl

All inpatients being monitored by this glucose test strip method must have a ‘paired’ fluoride sample sent to the Clinical Chemistry laboratory for a glucose test daily.

β-Ketone (Beta-hydroxybutyrate)

Abbott FreeStyle Optium H Ketone Meter

Whole blood

Capillary Fresh capillary finger-prick.

1.5 µl

Always calibrate the meter with each new box of test strips. Use ONLY the calibrator supplied with the test strips. Test results may be erroneously low if the patient is severely dehydrated, or severely hypotensive, in shock or in a hyperglycaemic- hyperosmolar state.


Laboratory Handbook


Test Specimen Type


Notes / Comments

HbA1c (Haemoglobin A1c)

Siemens DCA Vantage®

HbA1c Analyser

(Diabetic clinics).

Whole blood

Capillary Fresh capillary finger-prick.

1.0 µl Conditions such as haemolytic anaemia, polycythaemia, homozygous HbS and HbC, can result in decreased life span of the red blood cells which causes HbA1c results to be lower than expected.

Urine Specific Gravity

Atago UG-1 Digital Urine S.G

Refractometer

(Ward 6)

Urine Collect urine as per ward policy.

Z10 0.2 ml

Urinalysis

Siemens Clinitek Status+

Urine A first voided mid- stream morning urine is best for routine analysis.

Z10 10 ml


Laboratory Handbook


Reporting Point of Care Test results Test results must be transcribed onto patient charts and/or nursing notes as follows:-

1. Transcribe PCCU blood gas reports onto ward charts/patient notes. 2. Sign off all transcribed results as checked. 3. Always include the date and time of test. 4. Always identify the operator. 5. Identify all results from POCT equipment as 'POCT' results in the patient

notes, to distinguish results from those obtained by the Clinical Chemistry main laboratory analysers.

6. Attach adhesive urine dipstick reports to patient notes. 7. Highlight all abnormal results generated by POCT equipment according

to local ward procedures. 8. Document all actions taken in response to POCT results in the patient

notes e.g. notification to medical staff. The Clinical Chemistry Duty Biochemist (bleep 095) is available for advice and/or interpretation of results.

The Point of Care Testing Committee, chaired by Mrs Camilla Scott, oversees all ward based testing and any concerns, queries or proposed developments should be directed to this group. Please note that due to accreditation process changes POCT services are not currently accredited.

POCT Co-ordinator Ext 17305 Bleep 053


Laboratory Handbook


RELATED LABORATORY SERVICES IN SHEFFIELD

Telephone Ext

Laboratory Medicine Directorate Sheffield Teaching Hospitals

Dr B Perunovic (Clinical Director) Mrs L Hayes (PA)

61424 12296 14309

Telephone 0114 2434343 Mrs E Colgan (Directorate Manager)

69439

Mr R Fleming (Quality Manager/Risk Lead)

15319

Ms S Cassidy (Directorate Business Manager)

69471

Mrs J Galloway (Laboratory IT Manager)

14257

Ms J Cooper (PA) 14717 Department of Clinical Chemistry Results line & enquiries 14716 Northern General Hospital Dr G Gillett (Consultant) 14316 Telephone 0114 2434343 Dr H Delaney

(Consultant) Dr P Masters (Consultant)

14248 52686

Mr K Green (Lead Lab Manager Clinical Chemistry/Immunology)

15707

Mr D Tazzyman (Acting Lab Manager Automation)

66454

Main Sample Reception 14260 Automated Routine 14928 Manual Immunoassay 14244 Trace Metals 14242 PID Area 14438 Toxicology 67240

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Department of Clinical Chemistry Results line & enquiries 12348 Royal Hallamshire Hospital Telephone 0114 2711900

Mrs P Wilson (Acting Lab Manager)

61347/12348

Mr I Jabbar(Specialist/Technical Lead)

61347

Sample Reception 12812 Main lab 13298 Endocrinology 13136 Department of Haematology Royal Hallamshire Hospital

Mr R Wardle (Lead Lab Manager)

12621

Telephone 0114 2711900 Results line & enquiries 12284 Automation Laboratory 12594 Blood Bank 12333 Cell Markers 12801 Haemolysis 12859 Reception 12998 Coagulation 12955 Department of Haematology Results line & enquiries 14304 Northern General Hospital Telephone 0114 2434343

Dr J Van Veen (Consultant)

14394

Mr A Weir (Lab Manager)

14945

Main Sample Reception 14260 Haematology 14723 Coagulation 14943 Blood Bank 14246 Microscope Room 14305 Department of Histology Royal Hallamshire Hospital

Dr B Perunovic (Consultant) Ms J Jones (PA)

61424 11930/69439

(Satellite Lab only at NGH) Telephone 0114 2711900

Mr D Whittaker (Lead Lab Manager) Ms S Hibberd (Lab Manager) Mrs R Leff (Deputy Lab Manager)

12663 13727 68424

Enquiries 61380


Laboratory Handbook


Results line 12728 Main Lab 12240 Department of Immunology Results line 15552 Enquiries 69196 Northern General Hospital Telephone 0114 2434343

Dr W Egner (Consultant)

15349

Dr R Sargur (Consultant)

15704

Dr D Arnold (Consultant)

15700

Mr K Green (Lead Lab Manager Clinical Chemistry/Immunology)

15707

Mr J Aldis (Acting Lab Manager

15719

Main Sample Reception 14260 Electrophoresis

Laboratory 15724

Immunochemistry Laboratory

15720

Immunofluoresence Laboratory

69767

PID Area 14438 Pre-natal Screening

Laboratory 15725

Department of Microbiology Results line & enquiries 14777 Northern General Hospital Telephone 0114 2434343

Dr S Thompson (Consultant)

17579 (SCH) 14777 (NGH)

Dr E McLellan (Consultant)

68482 (RHH)

Dr D Partridge (Consultant)

14538 (NGH) 12773 (RHH)

Mr D Whittaker (Lead Lab Manager)

14528

Main Sample Reception 14260

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Automated Serology 14928 Chlamydia Laboratory 14256 CL3 Bacteriology

Laboratory 15538

CL3 Virology Laboratory 14539 Enteric Laboratory 14535 Environmental

Laboratory 14534

Main BacteriologyLaboratory (B/C Area)

53245

Main BacteriologyLaboratory (GUM Area)

69217

Manual Serology (Bench) 52506 Manual Serology

(Samples) 14531

PCR Laboratory 3 66289 PCR Laboratory 4 52749 PCR Laboratory 4 Lobby 52720


Laboratory Handbook


CLINICAL CHEMISTRY

LOCATION OF DEPARTMENT B Floor, Orange Wing Pathology Block Sheffield Children’s NHS Foundation Trust Western Bank Sheffield S10 2TH

CONTACT DETAILS Mrs Camilla Scott, Clinical Scientist and Head of Department

Ext 17404

Mrs Camilla Scott’s Secretary – Lynne Wolstenholme

Ext 17318

Mr P Craddock-Jones Laboratory Manager Ext 17444 Bleep 009

Mr Craddock-Jones’s PA – Alison Lenthall Ext 17340

ENQUIRIES Laboratory Office Ext 17340 Laboratory Office Fax 0114 270 6121 Answering machine and FAX 0114 271 7263 Duty Clinical Scientist Bleep 095 On-call Clinical Scientist Bleep 07659 512616 Acute Section Routine results/Emergency requests Ext 17305/17306/17427 Matthew Jordinson (Chief Biomedical Scientist)

Ext 17134

Fraser Cocker (Senior Biomedical Scientist) Ext 17134 Sharon Colyer (Principal Clinical Scientist) Ext 17307 Georgina Howson (POCT Co-ordinator) Ext 17134 Metabolic Section Result enquiries Ext 17445 Claire Hart (Principal Clinical Scientist) Ext 17307

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Louisa Smith (Chief Biomedical Scientist) Ext 17405 Helen Chapman (Chief Biomedical Scientist) Ext 17405 Stephen Mc Sweeney (Senior Biomedical Scientist)

Ext 17445

Tissue Culture Section Dr Simon Olpin (& answer phone) Ext 17267 Joanne Croft (Clinical Scientist) Ext 17267/60972 Prenatal diagnosis enquiries Ext 17267 Newborn Screening Section Newborn screening results (09.00 to 12.30) Ext 17257 Answering machine and fax Ext 17263 Dr Lynette Shakespeare (Screening Lead Scientist)

Ext 17302

Catherine Dibden (Clinical Scientist) Ext 17346 Ullas C-Joseph (Chief Biomedical Scientist) Ext 17500 Sheila Ellin (Senior Biomedical Scientist) Ext 17346 Jade Barber (Senior Biomedical Scientist) Ext 17346 Mrs G Race (Specialist Nurse) Ext 17415 Mrs A M Casbolt (Specialist Nurse) Ext 17415

LABORATORY OPENING TIMES Normal laboratory opening times Monday to Friday

9.00am- 5.00pm Receipt of samples which require special handling (e.g. growth hormone, insulin, dynamic function tests with multiple samples or research samples)

Monday to Friday 9.00am- 4.00pm

For the analysis of urgent samples outside the above times, contact the Biomedical Scientist on call for Clinical Chemistry via the Hospital Switchboard.

SERVICES PROVIDED A 24 hour service is provided for the Children’s Hospital, Ryegate Children’s Centre, and Becton Centre (CAMHS). Support is also provided for the management of ward-based blood gas analysis and glucose monitoring.


Laboratory Handbook


Specialist paediatric advice is available to help in the interpretation and selection of tests on a 24 hour basis. Where appropriate (predominantly for immunology, toxicology and some endocrinology) samples are referred to other local hospitals. The newborn screening section of the laboratory covers all babies born in Derbyshire, Leicestershire, Lincolnshire, Northamptonshire, Nottinghamshire, Rutland, South Humberside and South Yorkshire. A Regional service is also provided for the investigation of children with a suspected metabolic disorder. This service is available to the Sheffield Children’s NHS Trust without cross charging and to other users on a cost per test basis . Many of the more complex investigations are free for patients in the Trent Region and South Humberside as they are covered by contracts for Newborn metabolic screening.

SPECIALISED BIOCHEMICAL SERVICES Drug Analyses Plasma concentrations of the following drugs are measured in this laboratory for the purpose of therapeutic drug monitoring or in cases of suspected overdose: Alcohol, Caffeine, Cyclosporin, Iron, Methotrexate, Paracetamol, Salicylate and Tacrolimus. Samples for the measurement of other drugs will be referred. Specimen requirements are given in the laboratory test A-Z listing at the back of this handbook. In some instances it may be possible to measure drug levels in other fluids such as urine by arrangement with the laboratory. A toxicology service is provided at the Northern General Hospital (ext 12046). For further information on referral services contact the Duty Biochemist (Bleep 095). Therapeutic drug monitoring Caffeine analyses are performed routinely. Other drug analyses are performed as required. The laboratory must be contacted for urgent results. For a valid interpretation of the results, the following information must accompany each request:

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time of last dose

time blood sample taken

other drugs being taken Suspected overdose For a valid interpretation of paracetamol levels, blood samples must not be taken within 4h of ingestion. After suspected overdose of theophylline, caffeine, iron, methotrexate or alcohol analyses may be available out of hours after contacting the on-call Clinical Scientist. After suspected overdose of other drugs collect up to 10 mL whole blood in lithium heparin and as much urine as possible in a plain container. The collection of tissues or other fluids may be appropriate. Contact the Duty Biochemist (Bleep 095). Samples collected after suspected overdose must give the type of preparation taken and the estimated time of ingestion. Post Mortem Samples Dried blood spot and bile samples taken at post mortem will be returned to the requesting laboratory, along with the report, for disposal or storage according to the consent obtained. Forensic Analyses If police involvement is likely, special precautions are required for sample collection. For advice on this and other toxicology matters contact the Toxicology Laboratory at NGH via switchboard. Sweat tests The test is performed by laboratory staff. Please contact the laboratory (ext 17305) to arrange an appointment date for the test to be carried out and immediately forward a request form. Fully completed request forms must be sent to the laboratory; whilst they do not accompany the patient/carers they are the means by which the laboratory ascertains consent has been given. Up to two sweat tests can be carried out per day, therefore, it is advisable to book well in advance. Tests are booked for 2.00pm only and usually take place in the Research and Medical Treatment Lounge (outpatients) or occasionally on the wards (inpatients) or Cystic Fibrosis Unit. Urgent medical day care sweat tests will usually only be performed if certain criteria are fulfilled (bleep Duty Biochemist 095). Advice sheets, directions and map are sent to parents prior to the test and a further information sheet will also be provided on arrival. Analysis takes place each Wednesday.


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Investigation of Inborn Errors of Metabolism A service is provided for the detection, diagnosis and monitoring of patients with inborn errors of metabolism. Analyses performed are included in the laboratory test A-Z listing at the back of this handbook. It is important that requests for the investigation of inborn errors of metabolism are accompanied by adequate clinical information including drugs being taken at the time of sampling. If the relevant clinical information is detailed, the laboratory should be contacted by letter or telephone. See User’s Handbook for Metabolic Investigations for further details (available from the laboratory). Skin Biopsies Further investigation of some disorders requires the use of cultured fibroblasts. The following are routinely available:-

Screen for disorders of long-or medium-chain fatty acid oxidation This screen will detect defects of carnitine transport and deficiency of carnitine-palmitoyltransferase types 1 and 2, carnitine acylcarnitine translocase deficiency, very-long- or medium-chain acyl-CoA dehydrogenases, long-chain 3-hydroxyacyl-CoA dehydrogenase and other disorders of the trifunctional enzyme complex and mild to severe multiple acyl-CoA dehydrogenation defects (ethylmalonic-adipic aciduria and glutaric aciduria type 2).

Carnitine-acylcarnitine translocase

Glutaryl-CoA dehydrogenase (for glutaric aciduria type 1)

Palmitoyl carnitine transferase Type I and II

Propionyl-CoA carboxylase (for propionic acidaemia)

Pyruvate carboxylase

3-Methylcrotonyl-CoA carboxylase

Fumarate hydratase

Release of 14

CO2 or 14

C-incorporation from various substrates for the detection of methylmalonic aciduria, isovaleric acidaemia and other disorders

Very long-chain fatty acids

Very long chain acyl-CoA dehydrogenase

Citrulline incorporation into fibroblasts for detection of defects of argininosuccinate synthase and argininosuccinate lyase.

Acylcarnitine profiles on cultured fibroblasts incubated with palmitate and L-carnitine.

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Enquire for disorders not listed. In general the laboratory will advise on the need for tissue based assays and make the necessary preliminary arrangements. Consent for skin biopsy collection is the responsibility of the requester. For skin biopsies taken in SCH within normal working hours (Mon-Fri; 9.00-17.00), a consent form and pot of sterile culture media is obtainable from the Metabolic Laboratory Ext. 17445. Please ensure the Trust’s Patient Identification Policy is followed prior to sample collection (see page 10), and that a fully completed request form with full clinical details and test request is included. Samples are transported at room temperature to Clinical Chemistry Department to arrive ideally no later than 4.30pm, Skin biopsies sent from outside of the Trust must be sent in sterile media or saline as appropriate. For skin biopsies sent from external hospitals within the Trent Inherited Metabolic Disease Group a request form with full clinical details and test request is required. Sample transport at room temperature, normal first class post to Clinical Chemistry Department to arrive ideally no later than 4.30pm Mon – Fri. Please contact laboratory if sample to arrive on the weekend (0114 271 7445 or 271 7267). For skin biopsies sent from external hospitals outside the Trent Inherited Metabolic Disease Group, please contact the Tissue Culture laboratory prior to sample collection to discuss sample collection details and turnaround times. A request form with full clinical details and test request is required. Please note turnaround times (TAT) are flexible when applied to cultured cell assays. As different patient cell lines grow at different rates. In general for most assays starting from a skin biopsy the TAT is 8-12 weeks. Muscle Biopsy/CSF Neurotransmitters Please contact the laboratory on ext 17445 when arranging muscle biopsies and CSF neurotransmitters. The laboratory requires at least 24 hrs advance notice of these procedures, in order to commit staff. Appropriate collection medium etc will be provided by the laboratory staff as well as liquid N2 in which to freeze the samples. All collections except those taking place in theatres will be attended by a metabolic member of staff. Newborn Screening Dried blood spot samples are collected on newborn babies at day 5 (5-8 days) by midwives to screen for phenylketonuria, congenital hypothyroidism, cystic fibrosis, sickle cell disease, medium chain acyl CoA dehydrogenase (MCAD) deficiency, maple syrup urine disease (MSUD), homocystinuria, iso valeric


Laboratory Handbook


acidaemia (IVA) and glutaric aciduria type 1 (GA1). Results are sent out to the appropriate Child Health Record Department for entry into the Child Health Information System and checking against birth lists. Positive cases are referred for further investigation and treatment to designated paediatricians or haematologists. Individual negative results are NOT normally sent out to hospital doctors or Family Practitioners. This service is largely separate from the routine analytical services offered in the hospital and in general it is NOT appropriate to enquire directly of the Newborn Screening Laboratory for a test result. If an abnormal result has been found then, as soon as it has been confirmed the patient’s Family Practitioner will have been informed. If you have clinical suspicion of ANY of the disorders screened for, it is better to initiate further investigations since these are screening assays only. Please bleep the Duty Biochemist on 095 if advice is required on further investigations. The newborn screening test for congenital hypothyroidism will not detect secondary hypothyroidism. Immunoreactive trypsin is not always abnormal in cystic fibrosis patients with meconium ileus.

URGENT REQUESTS

Requests for urgent analyses out of normal working hours should only be made if the results must be known before the next full working day and are likely to have a direct affect on patient management (see Asher’s criteria pg 5).

During normal working hours Urgent requests must be arranged with the laboratory by telephone so that if there is any delay in receipt, steps can be taken to locate the sample. Urgent samples which arrive in the laboratory without prior arrangement may be delayed. Outside normal working hours The following analyses are available by contacting the Biomedical Scientist on call through the hospital switchboard.

Blood: urea, Gentamycin, Tobramycin creatinine & electrolytes (sodium, potassium, chloride, bicarbonate), calcium (with albumin), magnesium, osmolality, glucose, LFT, amylase, uric acid, salicylate, paracetamol, iron, alcohol, lactate, ammonia, CRP, methotrexate (if previously arranged) and Ferritin (if previously arranged)

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Urine: sodium, potassium, osmolality. CSF: glucose and protein.

Any samples arriving in the laboratory without contacting the on-call Biomedical Scientist will be treated as non-urgent and stored for analysis the following morning. Where possible please contact the Biomedical Scientist on call after the sample has been taken unless specific collection information is required. Please keep calls after 10 pm to a minimum. Calls between 07:30 am and 9:00 am will be routed via a Principal or Consultant Clinical Scientist. Other tests may be performed out of hours after discussion with the Biomedical Scientist on-call who may refer you to the Consultant Clinical Scientist.

TELEPHONING LIMITS

The results of the following tests will be telephoned to the requesting clinician if they are above or above the following action limits.

TEST BELOW ABOVE

Alcohol (ETOH) 80

Ammonia (AMON) 50 (neonate 100)

200 (inform DB if new case)

Amylase (AMYL) 450

Bicarbonate (ECO2) 10 35

Bilirubin – conj. (Bc) 30 (if first result)

Bilirubin – unconj.(Bu) 300

B12 150 (send to RHH)

Blood Gases Where applicable (out patients)

Calcium (Ca) 2.00 (1.75 neonate) 3.10

Creatine Kinase (CK) 500 [>5000 inform DB]

Cortisol (am only unless hypoglycaemic or stressed)

150

Cyclosporin 400

Lactate (LAC) 5.0


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TEST BELOW ABOVE

Ferritin 3,000

FK506 / Tacrolimus 2.0 12.0

Gentamicin 2.0

Blood Glucose (GLU)

CSF Glucose (CSF)

2.7

Glu 2.8 &/or Ratio 0.6

11.0

4.4

Folate 2.0

Iron (Fe) 30.0

Lactate (LAC) 5.0

Magnesium (MG) 0.30

Methotrexate All results

Paracetamol (ACET) 200

Phosphate (PHOS) 0.30

Potassium (K) 3.0 6.0 (7.0 if neonate)

CSF Protein (CSF) Age dependant – any out of range (*)

Salicylate (SALI) 400

Sodium (Na) 120 150

Tobramycin 2.0

Urate (URIC) 750 (<10y)

1000 (>10y)

Urea (UREA) 20.0

REQUESTING ADDITIONAL INVESTIGATIONS

Please be aware that laboratory staff will obtain volumes of blood on capillary phlebotomy ward rounds appropriate to the tests requested when the phlebotomist first saw the form. Therefore there is no guarantee that there will be enough spare for investigations requested later. However laboratory staff will endeavour if at all possible to maximise the use of that sample. Furthermore, samples with a high haematocrit/PCV often have much less available plasma available for analysis following centrifugation; consequently for

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the same tests required as another patient with normal haematocrit/PCV either more blood is required or else fewer tests can be performed.

LIMITATIONS OF RESULTS (Also see section on Uncertainty of Measurement in the General Information) Results may be affected by poor storage conditions, delays in sample transportation, incorrect use of sample preservatives, inappropriate collection site (e.g. drip arm), or collection time (e.g. therapeutic drugs) and analytical interferences. Consecutive sample results may be affected by biological and analytical variation. If advice is required on any of the above issues, please contact the laboratory. If any report contradicts clinical findings then please discuss the case with the Duty Biochemist.

CONSENT It is the responsibility of the referring clinician to obtain consent for testing. A completed consent form should accompany all tissue culture samples.

REFERENCE RANGES Reference ranges are provided for guidance in clinical decision making, rather than for prescriptive use. They are conventionally set to give the range of values which would be found in approximately 95% of a statistically ‘Normal’ population. They are derived from results obtained by this Department and from other sources. Reference ranges for blood refer to serum or plasma samples unless stated otherwise. Changes during growth and development create age-related reference ranges for most analytes. Detailed ranges are kept in the Department and information upon them may be obtained from one of the Biochemists. For the day to day interpretation of results age-related reference ranges have been condensed to cover generally recognised stages of development. These are generally added to the report automatically by the laboratory computer when the result is generated.


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Newborn: First 7 days of life for term baby. Neonate: First month of life for a term baby. Ranges may not apply to

pre-term or small-for-dates babies. Infant: Normally from the second month to one year, neonates are

included in these ranges if not separately quoted. Child: Normally one year to adolescence, neonates and infants are

included in these ranges if not separately quoted. Adult: From the end of adolescence (>16 yr)

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CLINICAL CHEMISTRY REFERENCE RANGES

Test Age Reference Range

Acid base (blood gas) Hydrogen (H+) (nmol/L) pH pC02 (kPa) pO2 (Kpa) Calculated actual bicarbonate (mmol/L) Calculated base excess (mmol/L)

Newborn Neonate/Infant Child/Adult Newborn Neonate/Infant Child/Adult Neonate Infant Child Neonate Child Adult Imprecision Child Adult Newborn Infant Child Adult

32-47 35-48 35-45 7.33-7.49 7.32-7.45 7.35-7.45 3-6-5.4 3.5-5.5 4.4-6.1 6.7-12.0 11.0-13.5 10.5-13.5 1.7 17-27 24-27 -10 to –2 -7 to –1 -4 to +2 -2 to +3

Acid Glycoprotein (orosomucoid) (g/L Child (>5y)/Adult

0.4-1.0 female 0.6-1.2 male

ACTH, 9am (ng/L) Child/Adult

<46

Acute phase reactants Alpha-1-antitrypsin (g/L)

Neonate Infant Child Adult

0.9-2.2 0.8-2.0 1.1-2.3 1.1-2.1

Alpha-1-antichymotrypsin (g/L) Adult 0.3-0.6

Alanine aminotransferase (ALT, SGPT) (U/L)

Neonate Child Adult

Up to 38 5-44 3-46


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Albumin (g/L) Neonate Infant Child Adult

24-40 25-49 35-48 35-50

Alkaline Phosphatase (U/L) Neonate Infant 1y-14y 14y-16y Adult

73-391 59-425 76-308 49-242 30-130

Alpha fetoprotein (kU/L) Newborn 2 weeks 4 weeks 6 weeks 8 weeks 10 weeks 3 month - Adult

50,000-150,000 7,000-20,000 1,500-2,500 200-400 50-100 6-12 3-8

Ammonia (µmol/L) Neonate Infant/Child/Adult

Up to 100 Up to 50

Amylase Plasma U/L Urine amylase/creatinine ratio u/mmol creatinine

Child/Adult

30-100 <38

Angiotensin Converting Enzyme (ACE) (U/L)

6m-19y 29-112

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Androstenedione (nmol/l) 1-7 days 1-4 Weeks 1-12 months 1-10 years 10-17 years Male 17 yrs + Female 17 yrs + Follicular Luteal Post-menopausal Synacthen test 0mins 30 mins

≤ 10.8 nmol/L ≤ 9.2 nmol/L ≤ 3.1 nmol/L ≤ 2.3 nmol/L ≤ 6.9 nmol/L ≤ 7.8 nmol/L ≤ 7.8 nmol/L ≤ 6.0 nmol/L ≤ 10.3 nmol/L ≤ 6.5 nmol/L ≤ 7.6 nmol/L ≤ 11.7 nmol/L

Aspartate aminotransferase (AST, SGOT) (U/L)

Neonate Infant/Child Adult

18-92 13-61 5-61

Bicarbonate (total carbon dioxide) (mmol/L)


14-30 16-30 19-28 22-29

Bile Salts Glycodihydroxycholanoate Plasma (µmol/L) Urine (µmol/mmol creatinine) Glycotrihydroxycholanoate Plasma (µmol/L) Urine (µmol/mmol creatinine) Taurodihydroxycholanoate Plasma (µmol/L) Urine (µmol/mmol creatinine) Taurotrihydroxycholanoate Plasma (µmol/L) Urine (µmol/mmol creatinine)

0-6 0.02-0.47 0-2 0.04-1.39 0-2 0.01-0.08 0-2 0.01-0.08


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Bilirubin, conjugated (µmol/L) Neonate Child/Adult

Up to 10 Up to 2 (97.5

th

centile)

Bilirubin, total paediatric (µmol/L) Neonate Child/Adult

Variable dependent on child. Action limits for phototherapy/exchange transfusion vary from days of birth and are lower for premature babies – See nomogram in trust guidance (Ref 1790v1) Up to 21

Biotinidase (U/L) Child/Adult 2.5-10.5

C-peptide (fasting adults, pmol/L) Adult 298-2350

Caffeine (mg/ml) 10-35mg/L

Calcium ionised (mmol/L) Child/Adult 1.13 – 1.32 (adjusted to pH 7.4)

Calcium total Plasma (mmol/L) Urine (mmol/24h)

Neonate Infant Child Adult Adult

2.14-2.74 2.13-2.72 2.10-2.56 2.14-2.51 2.5-7.5

Carbamazepine (Tegretol) (mg/L) Child/Adult 4-12

Carnitine (mol/L) Total Free

23-60 15-53

Chloride (mmol/L) Neonate Infant Child Adult

97-114 98-113 98-111 95-108

Cholestanol (µmol/L) All 3-16

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Cholesterol (mmol/L) Neonate Infant Child 16y-19y Adult (desirable)

1.5-4.0 1.2-4.7 2.8-6.0 2.8-5.7 <5.2

Cholinesterase (IU/L) >5300

Complement Profile (g/L) C3 C4 Components (g/L) C1 esterase inhibitor C3 nephritic factor

0.75-1.65 0.14 -0.54 0.15-0.35 Negative

Copper (µmol/L)

Urine mol/24h

0-6 months 6 months to 1y Female 1y-13y Female 13y-49y Adult (male) Adult (female) Child/Adult

5.9-16.3 3.8-23.8 11.0-27.0 11.0-38.9 11.0-27.2 14.2-35 <0.9

Cortisol (nmol/L) 09.00 hrs (Plasma/serum samples now analysed at SCH Clinical Chemistry) 9.00am – 12 noon midnight *N.B Early morning cortisol of ≤ 150nmol/L should prompt discussion with Endocrinologist. Urinary free nmol/24h

0-1m 1m-1y 1y -14y Adult Adult Adult

50-300 70-480 80-580 198-720* <100 10-147

Creatinine kinase (creatine phosphokinase (CK, CPK) (U/L)

0-90d 90d-1y 1y-10y 11y-14y 15y-18y Adult

28-470 24-240 24-175 30-170 27-145 30-170


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Creatinine (µmol/L) Urine Creatinine mmol/kg body weight/24h Creatinine clearance (ml/min/1.73 sq.m)

Newborn Neonate Infant 1y-2y 2y-4y 5y-11y 12y-14y 15y+ Male 15y+ Female Child Neonate Child Adult

31-107 24-76 13-34 13-34 21-39 29-53 40-69 54-90 43-71 0.045-0.34 40-65 95-150 Over 100mL/min

Cyclosporine (Ciclosporin) (g/L) Child/Adult 100-400 (trough levels)

7-Dehydrocholesterol (µmol/L) For the diagnosis of Smith Lemli Opitz Syndrome) Normal (µmol/L)

>5 <2

8-Dehydrocholesterol (µmol/L)

<3

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DHEAS (µmol/L) Male 1-7 days Male 8-15 days Male 1-6 months Male 6-12 months Male 1-4 y Male 4-7 y Male 7-11 y Male 11 y Male 12-15 y Male 15-17 y Male 17 y Male 18-19 y Male 20-29 y Male 30-39 y Male 40-49 y Male 50-59 y Male 60-69 y Male >70 y Female 1-7 days Female 8-15 days Female 1-6 months Female 6-12 months Female 1-4 y Female 4-7 y Female 7-9 y Female 9-11 y Female 11 y Female 12-14 y Female 14-17 y Female 17-20 y Female 20-29 y Female 30-39 y Female 40-49 y Female 50-59 y

2.5-10.2 1.0-6.1 <2.0 <0.7 <0.8 <0.5 <2.6 <4.1 <9.3 1.3-9.7 2.8-9.3 2.8-11.9 7.6-17.3 3.2-14.0 2.6-14.0 1.9-8.4 1.1-7.8 0.8-4.8 2.0-10 1.2-6.7 <2.0 <0.7 <2.1 <1.0 <1.8 <4.3 <2.7 0.8-4.8 0.9-9.6 2.6-10.9 1.8-10.3 1.2-7.3 0.9-6.5 0.7-5.4


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DHEAS (µmol/L) continued Female 60-69 y Female >70 y

0.4-4.0 0.4-2.4

Diazepam (with Nordiazepam) (µg/L) Child/Adult <2500

Digoxin (µg/L) Ideally 6-8h post dose Child/Adult Therapeutic target range 0.5-2.0 µg/L. In patients being treated for heart failure a target range of 0.5-1.0 µg/L is recommended (Hallworth and Watson “Therapeutic Drug Monitoring”, ACB Venture Publications 2008 page 98).

Dimethylglycine (µmol/mmol creatinine) 0-16

Dopamine (nmol/mmol creat.) 0-1y 1y-3y 3y-5y 5y-8y 8y-11y >12y

<1950 <1450 <950 <850 <750 <650

Ferritin (µg/l) 11-89

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Follicle stimulating hormone (FSH) (IU/L)

0-1 Month Male 1 month -6y Male 6y-11y Male 11y-14y Male 14y + Female 1 month – 14y Follicular phase Mid cycle Luteal phase Female 60y + (post menopausal)

<22.0 <2.8 <3.8 <4.6 1.5-12 0-11 3.5-13 4.7-22 1.7-7.7 26-135

Free T3 (pmol/L) 0 – 1 year 1 – 5 years 6 – 10 years 11 – 14 years 15 – 18 years

3.4 – 7.6 4.3 – 7.2 4.4 – 6.8 3.4 – 6.5 2.9 – 6.8

Free T4 (pmol/L) 0 – 1 year 1 – 5 years

11.0 – 23.6 11.0 – 20.8

Free T4 (pmol/L) continued 6 – 10 years 11 – 14 years 15 – 18 years

10.9 – 19.0 10.0 – 16.9 10.2 – 17.3

Galactose-1-Phosphate (µmol/GM-Hb) Galactosaemia on galactose free diet

Child/Adult Up to 30 >0.6

Gamma-glutamyl transferase (U/L) Newborn Neonate 1-m-3m 4m-6m 7m-12m Child Adult

24-227 11-149 <123 <53 8-20 10-27 9-31

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Glucose plasma fasting (mmol/L) Urine (mmol/L) CSF (mmol/L) CSF/plasma glucose ratio (mmol/mmol)

Neonate Child Neonate Child Diabetic in control Child

2.5-5.5 3.0-6.5 Up to 1.1 Up to 0.3 Up to 150 mmol/24 h 2.8-4.4 >0.6

Glycated haemoglobin (HbA1c) (mmol/mol Hb)

Child/Adult 20.0-48.0

Glycosaminoglycans (mucopolysaccharides MPS) (Screen) Mg/mmol creatinine

0-1m 1m-3m 3m-6m 6m-12m 1y-2y 2y-3y 3y-5y 5y-7y 7y-9y 9y-11y 11y-13y 13y-15y over 15y

22.1-40.8 9.2-38.8 11.9-34.5 4.2-30.5 6.8-21.7 9.7-19.5 6.2-15.4 6.2-12.1 4.1-10.8 4.5-10.8 2.8-10.4 2.0-7.6 1.7-4.4

Growth hormone (g/L)

0-7d 5-15d 15d-11y 11y-18y 18y+

1-23 1-15 <4.7 <11 <4.3

Hexanoylglycine (µmol/mmol creatinine)

Normal 0.1-1.1

High Density Lipoprotein (HDL) – Cholesterol (mmol/L)

Child Adult

0.8-2.1 1.0-1.7

Homocysteine Total (µmol/l) Adult male Adult female

0-18 0-16

Homovanillic acid (HVA) (mol/mmol creatinine)

Infant 1y-5y >5

4-25 2-15 2-13

Human chorionic gondatrophin (hCG) (IU/L)

Males, Non-preg. women

<2

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17-alpha-Hydroxyprogesterone (nmol/L) Range may be higher in ill and premature neonates

1-14d 2-13w 3m-1y 1y-3y 3y-11y 11y-15y >15 years Male Female Follicular Luteal Post-menopausal Synacthen test 0 mins 30mins

≤ 9.2 nmol/L ≤ 8.7 nmol/L ≤ 5.7 nmol/L ≤ 2.9 nmol/L ≤ 2.9 nmol/L ≤ 4.5 nmol/L ≤ 6.0 nmol/L ≤ 4.4 nmol/L ≤ 14.3 nmol/L ≤ 2.9 nmol/L ≤ 6.2 nmol/L ≤ 12.6 nmol/L

IGF-1 (g/L) 0-2y 2-4y 4-6y 6-7y 7-8y Female 8-9y Female 9-10y Female 10-11y Female 11-12y Female 12-13y Female 13-14y Female 14-15y Female 15-16y Female 16-17y Female 17-18y Female 18-19y

28-156 40-189 50-223 62-248 78-281 99-376 114-369 134-426 160-581 201-707 256-716 284-713 279-700 270-660 246-533 233-499


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IGF-1 (g/L) continued Male 8-9y Male 9-10y Male 10-11y Male 11-12y Male 12-13y Male 13-14y Male 14-15y Male 15-16y Male 16-17y Male 17-18y Male 18-19y 19-20y 20-30y 30-40y 40-50y 50-60y 60-70y 70-80y >80y

90-284 102-304 117-305 129-339 141-419 179-540 229-691 269-697 267-673 243-527 235-512 220-471 115-340 109-324 103-310 97-292 91-282 47-207 40-184

Immunoglobulins IgG (g/L) IgA (g/L) IgM (g/L) IgE (kU/L)

Neonate Infant Child Adult Neonate Infant Child Adult Neonate Infant Child Adult Neonate Infant Child Adult

3.9-17.0 2.1-10.9 3.1-16.1 6.0-16.0 0.01-0.15 0.05-0.7 0.3-2.8 0.8-4.0 0.05-0.4 0.15-2.1 0.5-2.2 0.5-2.0 Up to 5 Up to 11 Up to 63 Up to 120

Insulin (from 24/1/11) (pmol/L) Fasting adult 17.8-173

Iron (mol/L) 0-2y >2y

3.6-25.0mol/L

3.6-26.0mol/L

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Lactate fasting (mmol/L) Neonate Child Adult

Up to 3.0 0.9-1.8 0.6-2.4

Lactate dehyrogenase (LDH) (U/L) Neonate Child Adult

Up to 1300 400-900 340-670

Lipase (U/L) <60

Lithium (mmol/L) 0.4 – 1.0 (risk of toxicity if >1.5)

Luteinising hormone (LH) (IU/L) Male 0-1y Male 1y-11y Male 11y-14y Male 14y-17y Male 17y+ Female 0-6y Female 6y-11y Female 11-14y Follicular phase Mid cycle

<3.2 <1.4 <7.8 1.3-9.8 1.7-8.6 <0.5 <3.1 <11.9 2.4-13 14-96

Luteinising hormone (LH) (IU/L) continued

Luteal phase Female 60y + (post menopausal)

1.0-11 7.7-59

Magnesium Plasma (mmol/L) Urine (mmol/kg body weight/24h) (mmol/24h)

Neonate Infant/Child Adult Child Adult

0.6-1.04 0.64-1.09 0.7-1.0 Up to 0.18 2.4-6.5

Manganese (nmol/L) Risk of toxicity

<1y Child/Adult

120-325 73-210 >364

Methylmalonate (µmol/mmol creatinine) Child Adult

1.0-8.0 0.2-2.4

Microalbumin (mg/mmol creatinine) <2

Myoglobin (g/L) Serum Urine

28-84 <10


Laboratory Handbook



Noradrenaline (nmol/24h) 0-1y 1y-3y 3y-5y 5y-8y 8y-11y >11y

<430 <200 <190 <180 <170 <130

17β-Oestradiol (pmol/L) Dependant on referall laboratory used.

Orotic acid (mol/mmol creatinine) Infant/Child/Adult

<3.5

Osmolality Plasma (mmol/kg) Urine (mmol/kg) After water deprivation administration Maximum dilution Maximum concentration

Child/Adult Neonate/Child Adult Adult

275-295 100-800 over 800 40-100 600-1400

Oxalate (mmol/24h) Child Adult Female Adult Male

0.14-0.42 0.04-0.34 0.08-0.49

Paracetamol (mg/L) Therapeutic range 1-2 h after last dose Overdose; sample taken not less than 4h after overdose: 4 hour levels Refer to Nomogram in BNF

Child/Adult

Up to 30 >100 (treatment indicated – See BNF)

Parathyroid hormone (PTH) (ng/L) 2y 9y 17y 19y

6.4 - 88.6 16.2 - 63.0 21.9 - 87.6 16.0 - 60.4

pH Urine Within 3 hrs of an ammonium chloride load

Neonate Child

Over 5.0 5.3-7.2 <5.3

Phenobarbitone (Phenobarbital) (mg/L) Trough level after at least 14d of constant therapy

Child/Adult

10-40

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Phenylalanine fasting (mol/L)

Newborn <6m 6m-2y 2y-10y 10y-17y Adult

40-110 32-128 40-140 20-130 30-115 40-100

Phenytoin (mg/L) See Trust guidelines for Therapeutic Drug Monitoring (1523)

Child/Adult

5-20

Phosphate fasting (mmol/L) Plasma Urine (mmol/kg/body weight/24h) (mmol/24h)

Neonate Infant Child Adult Child Adult

1.0-2.7 1.1-2.4 0.8-1.9 0.8-1.5 0.33-1.28 15-50

Phosphoethanolamine (mol/mmol Cr) Heterozygote 3-8 x normal Homozygote 10-50 x normal

Child/Adult <10

Phytanate (mol/L) Normal 0.2-19.3

Plasmalogens in red blood cells(ratio) C16 Palmitate C18 Stearate

0.060-0.160 0.150-0.400

Potassium Plasma (mmol/L)


3.5-6.5 3.5-5.7 3.5-5.4 3.5-5.3

Potassium continued Urine (mmol/kg body weight)

Neonate Child Adult

Up to 2.3 Up to 2.0 (25-125 mmol/L) 25-100 mmol/24h

Pristanic acid (mol/L) Normal 0-1.88


Laboratory Handbook



Progesterone (nmol/L) Male Female 14-60y

0.7-4.3 No range

Prolactin (mU/L) 0-1y Male 1y + Female 1y +

No range 86-324 102-496

Protein total Plasma (g/L) Urine (mg/24h) Urine protein/creatinine ratio (mg/mmol creatinine) CSF (g/L)

Neonate Infant Child >17yr Neonate Child Adult Newborn Neonate 1m-2m 2m-6m >6m

33-72 48-78 60-83 60-80 Up to 10 Up to 50 Up to 100 <20 0.3-1.4 0.3-1.2 0.2-0.9 0.1-0.7 0.1-0.4

Salicylate (mg/L) Therapeutic range Overdose 4h after ingestion

Child

Therapeutic level <200 Refer to toxbase for guidelines on toxicity

Selenium (mol/L)

Glutathione peroxidase (/g-Hb)

<2y 2y-4y 4y-16y >16y

0.22-1.22 0.33-1.44 0.52-1.52

0.61-1.24/g-Hb

Sex hormone binding globulin (SHBG) (nmol/L)

Child prepubertal Male 17y + Female 17-50y

No range 14.5-48.4 26.1-110

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Sodium Plasma mmol/L) Urine (mmol/kg body weight/24h)

Neonate Infant Child Adult Neonate Child Adult

131-143 133-142 133-144 133-146 Up to 4.4 Up to 3.7(40-200 mmol/24h) 100-200 mmol/24h

s-Sulphocysteine (µmol/mmol creatinine)

<10

Testosterone (nmol/L) Male 0-1 month Male 1m-6m Male 6m-6y Male 6-13y Male 13-18y Male 18y + Female 0-1 month Female 1m-10y

2.6-14 <6.1 <1.12 <2.37 0.98-38.5 9.9-27.8 0.7-2.2 <0.4

Testosterone (nmol/L) continued Female 10-12y Female 12y +

<0.9 0.22-2.9

Theophylline (mg/L) >1 month/Adult 10-20 Can be lower in neonates

Thyroid stimulating hormone (TSH, thyrotrophin) (mU/L)

0 – 2 weeks 2 weeks – 12 months 1 – 10 years 11 – 14 years 15 – 18 years

0.70 – 7.40 0.80 – 5.40 0.70 – 4.50 0.50 – 3.60 0.40 – 3.40


Laboratory Handbook



Transferrin (g/L) Child/Adult 2.0-3.2

Triglyceride fasting (mmol/L) Neonate Infant Child Adult

<1.8 0.3-1.7 0.4-2.1 <2.5

Trimethylamine (and Oxide) (mol/mmol cr.)

Interpretation given on report

Urea (mmol/L) Neonate Infant Child Adult

0.5-5.7 0.3-4.7 1.6-6.0 2.5-7.8

Uric acid

Plasma (mol/L) Urine (mmol/mmol creatinine)

Neonate Child <10y Child >10y Adult (male) Adult (female) Neonate Infant Child Adult

120-470 160-390 160-500 200-430 140-360 0.3-1.7 0.3-1.3 0.3-0.8 0.3-0.5 (1.5-4.5 mmol/24h)

Valproate (mg/L)

Child/Adult 50-100 >150 may be toxic

Very long chain fatty acids (peroxisomal disorders)

C22 (mol/L)

C24 (mol/L)

C26 (mol/L) C24/C22 C26/C22

15-112 14-80 0.33-1.50 0.44-0.97 0.005-0.030

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Vitamins

A (mol/L)

C (ascorbic acid mol/L)

E (mol/L)

Vitamin E/Lipid ratio (mol/L)

Neonate/Infant 1-6y 7y-11y 12y-18y >19y Neonate Child <16y >16y-adult 1y-6y 7y-12y 13y-19y Adults

0.50-1.50 0.70-1.50 0.91-1.71 0.91-2.51 0.84-3.60 26.1 – 84.6 4.6-14.0 9.0-28.0 11.6-35.5 3-5 2-5 2-4 >1.6

Vanilyl mandelic acid (VMA)

(mol/mmol creatinine)

Infant 1y-5y >5y

2-12 2-9 1-7

Zinc (mol/L) Infant/Child/Adult

7.2-20.4


Laboratory Handbook


DEPARTMENT OF PAEDIATRIC HAEMATOLOGY AND BLOOD BANK

LOCATION OF DEPARTMENT A Floor, Orange Wing Pathology Block

Sheffield Children’s NHS Foundation Trust Western Bank Sheffield S10 2TH

CONTACT DETAILS Departmental Fax 0114 276 2289 Tel Ext Bleep Dr E Astwood Consultant Haematologist and

Head of department 67951 136

Secretary 17477 Dr J Payne Consultant Haematologist 17349 168 Secretary 17477 Dr K Patrick Consultant Haematologist 53662 249 Secretary 17477 Specialist Registrar 811 Mr Philip Craddock-Jones

Laboratory Manager 17260

Mrs Paula Simpkin Haematology Service Lead 17230 Miss Michelle Scott Blood Bank Service Lead 17230 Mrs Amanda Baxter Specialist Practitioner of Blood

Transfusion 17107

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Haematology Data Manager 60865 Mr Shaun Emmitt Nurse Consultant 17329 123 Administrative Assistant

60865

Enquiries/Results Haematology Main Laboratory 17221

Blood Bank 17478

ENQUIRIES During routine hours technical or clinical enquiries may be made by visit or by telephone. Out of hours contact is via hospital switchboard.


9.00am- 5.30pm Receipt of routine samples Monday to Friday

9.00am- 5.00pm Receipt of samples for crossmatching next day

Monday to Friday 9.00am-2.30pm

SERVICES PROVIDED A 24-hour service is provided for the Children’s Hospital and the Ryegate Children’s Centre. A laboratory service is also provided for local GPs. Specialist paediatric advice is available to help in the management of patients with haematological problems and in the interpretation of results and selection of tests from consultant/SpR staff on a 24-hour basis. The following is extra information not suitable for inclusion in the test table.


Laboratory Handbook


Therapeutic materials available from Blood Bank. Patients with special transfusion needs can be catered for. Please indicate on the form. It is crucial that clinical details are given to allow appropriate materials to be selected e.g. CMV seronegative and gamma irradiated following e.g. IUT, HSCT or fludarabine therapy etc. For urgent, emergency, major incidents and complicated cases it is imperative good communication is maintained with blood bank. During Major Incidents Blood Bank requests must include a unique major incident number, the patient gender and approx age. Red cells request - Require Blood Bank request form. User to complete usage/tracing label and return to Blood Bank lab. Platelets, Fresh frozen plasma (FFP) and Cryoprecipitate. Requires phone call to Blood Bank and a subsequent Blood Bank request form. For elective cases also requires phone call to consultant haematologist to confirm need and dose. A group and save sample will be required if blood group is unknown. User to complete usage/tracing label on blood pack and return to Blood Bank lab. Human albumin solution (HAS) stored in Blood Bank Laboratory (4.5%/5% 250ml, 20% 50ml). Only need to phone Blood Bank Laboratory if massive amounts are required or continuous therapy anticipated. Porter to collect from the Blood Bank Laboratory. User to complete usage/tracing label on package and return to Blood Bank Laboratory. Clotting factor concentrates – a variety is stocked. Requires phone call to blood bank lab following approval from a consultant haematologist. HLA/HPA selected platelets can be supplied. Requires phone call to consultant haematologist and blood bank lab and subsequent blood bank request form. May require a sample. Sample Requirements for Blood Bank

1ml EDTA (pink top) blood sample required for patients aged 6 months – 8 years.

2.5ml EDTA (pink top) blood sample required for patients aged 8 years or over unless unable to obtain a venous sample for clinical reason.

For patients aged < 6 months please see below.

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Baby group and crossmatch samples for Blood Bank Complete the dedicated blood bank request form including the maternal details section. For infants under 6 months of age we require 0.5ml EDTA (pink top) of baby blood sample (fully labelled with registration number) and 2.5ml EDTA (pink top) of maternal sample fully labelled with maternal name and DOB. Subsequent blood issues do not require further samples until 6 months of age. It is crucial we are informed of historical intra-uterine transfusions. When a crossmatch is requested, service users are responsible for notifying the laboratory when blood transfusion has been received at another hospital after a Blood Bank sample has been taken. Transfusion Reaction Investigation. Inform a consultant haematologist. Require 5ml plain clotted sample (glass vial white top not sera gel) and 5ml EDTA (pink top), the remainder of all units given. D-Dimers in the diagnosis of venous thrombo-embolism. D Dimer testing in the SC(NHS)FT Haematology laboratory is set up to detect cases of disseminated intravascular coagulation (DIC). The method used is not validated by SCH for the exclusion of deep vein thrombosis (DVT) or pulmonary embolism (PE) in children. The test must not be used for this purpose. In general blood samples should not be sent to the Royal Hallamshire Hospital for more sensitive testing, as the protocols used there have only been validated in adult patients. For individual adolescent children with suspected VTE d-dimer measurement at STH may be useful as part of the investigative algorithm but should always be discussed with a consultant haematologist prior to sending samples. If a DVT is suspected it should be investigated with Doppler ultrasound scan, after discussion with the Radiologist. If in doubt, please contact the on-call Haematology Consultant or SpR to discuss. Note there is detailed guidance available in the Ward 6 Haematology/Oncology guidelines which can be found in a folder on Ward 6 above the nurses station - see Section 12- Anti-Coagulation - 1333 Acute Venous Thrombosis (Ward 6/12/1333). The guideline can also be located in the SC(NHS)FT Guidelines on the intranet. Guidelines, minutes, policies, committees/approved clinical guidelines and protocols/ Haematology+Oncology/Ward M3/Anti-Coagulation/ 1333 Acute Venous Thrombosis (Section 11.9 reviewed by Jeanette Payne, March 2012).


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Capillary sampling for coagulation tests. Bearing in mind the need to have a free flowing and thoroughly anticoagulated sample for coagulation tests we normally require venous or arterial samples. However if venous access is unavailable the following circumstances/notes apply: -

0.5ml dedicated sample tube obtained from haematology on a named patient basis.

During routine ward rounds

Prothrombin time (PT) for paracetamol overdose. 1 other test e.g. FBC may be obtained – if this is exceeded the whole request will be left for medical staff.

INR for monitoring of oral anticoagulants in infants and small children. 1 other test may be obtained – if this is exceeded the whole request will be left for medical staff.

Anti-Xa for monitoring of low molecular weight heparin.

Capillary samples are unsuitable for APTT and will give erroneous results.

Specialist Coagulation assays/studies. The fill level in coagulation vials is crucial. Please discuss your request with the lab prior to sampling to determine exact requirements for volume and vial type. Approval with a consultant haematologist is required for factor assays, platelet function and thrombophilia tests. SCH performs assays for FII, FV, FVII, FVIII, FIX, FX, FXI, FXII, FVIII inhibitor, FIX inhibitor, lupus anticoagulant, platelet function (PFA100), Von Willebrands ( vWf, Rcof) and anti-Xa assay (for monitoring Low Molecular Weight heparin and unfractionated heparin) and APTT ratio (for monitoring unfractionated heparin), and D-Dimers (for DIC). Other available tests which require approval by an SCH consultant haematologist and which we refer onto Royal Hallamshire hospital include FXIII assay, tests for thrombophilia (ATIII, protein C, protein S, FV Leiden, anti-phospholipid antibodies), Dimers (VTE) and more specialised tests of platelet function. Bone Marrow investigations. Discuss requests with a consultant haematologist. The following is available on fluid bone marrow: morphology; cytochemistry for classification of acute leukaemia; Perl’s stain for ferritin/haemosiderin (iron status); immunophenotyping by flow cytometry for classification of acute H

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leukaemia; CD34 cell enumeration; (and karyotype and molecular genetic analysis by Sheffield Diagnostic Genetics Service) Lymphocyte subsets. Includes determination of total (CD3), helper/inducer (CD4), and suppressor/cytotoxic (CD8) T cells, B cells and NK cells. Requires approval from Immunology Consultant before requesting.

URGENT REQUESTS Urgent samples that arrive in the laboratory without prior notification run the risk of being delayed. For the analysis of urgent samples outside normal hours, contact the Biomedical Scientist on call for Haematology/Blood Bank via the Hospital Switchboard. Please note that the service is run from home with staff travelling to the laboratory to analyse urgent tests as appropriate. Requests for urgent analyses out of normal working hours should only be made if the results must be known before the next full working day and are likely to directly affect patient management (see Asher’s criteria in the Intended Audience section). Outside normal working hours The following analyses are available by contacting the Biomedical Scientist on call through the hospital switchboard. NOTE: Out of hours samples taken for FBC, film examination, ESR sickle test and slide test for infectious mononucleosis, and for which results are not required until the next working day, can be stored at 2-8°C and sent to the Haematology Department for the following morning or sent to the laboratory but indicate “not urgent” on the form. Any samples arriving in the laboratory without contacting the on-call Biomedical Scientist will be treated as non-urgent and stored for analysis the following morning.

Full blood count (Hb, Hct, Red cell count and indices, platelet count, total and differential white cell count).

Examination of blood film for malarial or other blood-borne parasites/malaria rapydtest

Sickle solubility (HbS) screening test.

Slide test for infectious mononucleosis.

Reticulocyte count.


Laboratory Handbook


Screening test for red cell G6PD deficiency.

Coagulation screen-prothrombin time, activated partial thromboplastin time, fibrinogen level, and D-dimers if disseminated intravascular coagulation is suspected.

Tests for monitoring anticoagulant control can be performed if clinically urgent.

Blood group (ABO and RhD type).

Crossmatch.

Direct antiglobulin (Coombs) test.

Blood component/product issue. The following guidelines on Haematological test choice are provided for specific clinical situations: Children with Petechial Rash and Fever (? Septicaemia) Full blood count only is required; coagulation screen is not, if it is being

done merely to exclude the diagnosis of meningitis. Neonates with prolonged jaundice Prothrombin time is indicated in this situation (in practice a coagulation

screen comprising PT, APTT and Fibrinogen will be performed). FBC in children with probable bacterial infection to whom antibiotic therapy has been given

Urgent FBC cannot be justified if treatment has already been given. The sample can be obtained but sent for analysis on the next routine working day.

ESR as an urgent request An ESR will only be performed as an urgent test in cases of suspected

septic arthritis where the presentation is not clear-cut. It is not warranted when the diagnosis is obvious, or when the child can be monitored until the morning. The test is only performed when the request is made after consulting the on-call consultant orthopaedic surgeon.

Blood counts on febrile neutropenic oncology patients

These may not be necessary, depending upon the time and level of the last neutrophil count. The requesting clinician should be asked to check the last count on ICE before the on-call Biomedical Scientist agrees to the request. H

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Issue of blood components and products (fresh frozen plasma, cryoprecipitate, platelets, factor concentrates) - after discussion between the requesting medical officer and the on-call Biomedical Scientist. Other tests may be performed out of hours only after reference to the Clinical Haematologist on call, who can be contacted via the hospital switchboard.

REQUESTING ADDITIONAL INVESTIGATIONS The ability to extend original requests is dependent on having sufficient remaining sample, its storage arrangements and technical/quality constraints. Typically: -

Glandular fever screens up to 24h

Sickle screen up to 48hours.

Blood films up to 24h

Coagulation tests up to 8 hours

Group and save samples are retained for approx 6 months.

In general contact the laboratory by telephone to determine the practicalities and then provide an additional request form to confirm the additional anaysis.

LIMITATIONS OF RESULTS (Also see section on Uncertainty of Measurement in the General Information) The effect of storage on analyses is dependant upon the choice of analysis and storage conditions. No sample should be stored (even temporarily) at greater than room temp unless specifically requested to do so. Avoid using shelves above radiators or workstations with lamps beneath. It is best practice to forward all samples to the lab upon collection. If delay is unavoidable or analysis not immediately required see later note re non-urgent FBC on call, then storage within a suitable fridge is preferable. Please ensure date and time sample collected is noted on all request forms - thus allowing the lab to judge whether to process the individual analysis". Significant interference can occur in coagulation testing due to heparin; on Hb due to severe lipaemia and on Hb phenotype/fraction quantitation due to transfusion. Difficult sampling causing sample activation/clotting interferes with coagulation tests and platelet count and possibly other FBC parameters. Samples diluted at source with e.g. infusion liquid or line flush will influence results for all analyses and may go un-noticed.


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Variability of results due to analytical imprecision is dependent upon the test, method and result value. Blood bank investigations will be influenced by previous transfusions/infusions. Users may contact the laboratory to discuss particular concerns.

REFERENCE RANGES Reference ranges are provided on ICE and the printed laboratory report for guidance in the interpretation of results. Age related reference ranges are provided as appropriate but they do not take into account normal racial variation or differences between venous and capillary sample type. Please seek advice from the laboratory if necessary.

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HISTOPATHOLOGY DEPARTMENT

LOCATION OF DEPARTMENT Laboratory and Office - C Floor Mortuary – A Floor Pathology Block

Sheffield Children’s NHS Foundation Trust Western Bank Sheffield S10 2TH

CONTACT DETAILS The Consultant Head of Department, Prof M Cohen 17486 Lab Manager, T Taylor 17373 Senior Biomedical Staff, J Ager, P Arnold 17264 Mortuary Manager, T Donn 53460 PM consent advice 67809/53317 Mortuary enquiries 17246 Reports/Results 17254 Technical laboratory advice 17264 Urgent requests 17264 On call pathologist (24 hours) Through

switchboard On call mortuary staff Through

switchboard Bereavement coordinator, S McGovern 53317


8.00am – 5.15pm Mortuary 8.00am to 4.15pm Please call ext 17264 to inform the Laboratory if fresh samples (i.e. not in formalin) are to be sent after 4.30pm.


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SERVICES PROVIDED The Histopathology Department provides a specialised paediatric and neonatal biopsy service to the Surgical and Medical Directorates at the Sheffield Children’s Hospital NHS Foundation Trust and provides a perinatal service to the regional Trusts. The Department also supports the provision of services for Oncology, Metabolic Disorders and Neuromuscular Disorders to North Trent, operating within the Children’s Hospital Trust. Local expertise is available for special investigations in enzyme histochemistry and immunochemistry. This laboratory is accredited under the UKAS ISO 15189 accreditation scheme and holds a HTA licence. Note: Please be aware the following tests carried out by the Histopathology laboratory are not currently accredited by UKAS:

Engel's Gomori

Oil Red O

NADH-TR

Succinate Dehydrogenase

Cytochrome Oxidase

Myoadenylate Deaminase

Phosphofructokinase (PFK)

Acid Phosphatase

Acetylcholinesterase (AChE)

Sirius Red

PHOX2B Regular clinico-pathological conferences are held in the Department with the Oncology, Clinical Genetics, Surgical and Gastroenterology teams and the Department contributes to the monthly perinatal audit meetings at the Jessop Wing (STH). A perinatal and paediatric post mortem service is provided to the Children’s Hospital and Health Authorities throughout South Yorkshire and North Derbyshire, together with coronial post mortem service for wider regions. Mortuary staff will provide advice on death procedures to bereaved relatives following a death (SCH only). The Department participates in the death Review Panels from South Yorkshire and Derbyshire.

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Consultation We welcome telephone calls to discuss the appropriate handling of specimens and interpretation of the histological findings (Tel ext 17264). Requests for Post Mortems Clinical staff are welcome to attend post mortem examinations related hospital deaths. Mortuary APTs inform of the starting time on request. (Tel ext 17246) Requests for post mortem examination should be directed to the Consultant Head of Department. (Tel ext 17486) In certain circumstances, the death must be reported to the Coroner. The Junior Doctors’ handbook gives some guidance on this issue but you may wish to discuss this with the pathologist before contacting the Coroner’s Officer. Requests for post mortem examination on all other deaths must be accompanied by a completed consent form and detailed request form. Consent forms must accompany all fetuses including those < 24 weeks gestation. You will be notified of the starting time of the post mortem and you are entirely at liberty to attend. Preliminary post mortem findings can be made available within 48 hours, if requested, and a microscopic report with full conclusion within 6 weeks. The mortuary staff are available between 8am and 4.15pm (ext 17246), for advice regarding consent for post mortems and can supply the consent forms and booklets to parents explaining post mortems. Doctors who obtain consent are strongly advised to read these before talking with parents.

OTHER INVESTIGATIONS Routine Histology (i.e. samples received in buffered formalin) Fixed tissue samples (samples in buffered formalin) can be sent to the laboratory by the air tube delivery system or by hand to the Histopathology Specimen Reception. Samples may be placed in a plastic universal or larger container in tissue fixative (buffered formalin), which is available from Theatres. The laboratory does not supply containers with fixative. However, the laboratory can provide fixative for the larger specimens that need to be placed in a specimen bucket, please phone the laboratory to arrange. Samples should only be placed in fixative for routine histology. If in any doubt, please telephone the laboratory for advice (ext 17264).


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The container should be large enough to accommodate fixative at least 10 x the volume of tissue to ensure adequate fixation. Avoid squeezing tissue specimens into small containers as this will cause distortion and result in difficulty with diagnostic interpretation. NB Please be aware of the hazards associated with buffered formalin (available from the laboratory).

Unfixed Samples and Special Investigations

The following specimens must not be placed in fixative and if small must be kept moist by placing on gauze or cotton wool moistened with saline. They must be immediately transported by hand to the Laboratory and handed directly to a member of the Histopathology staff. Unfixed samples for histopathology must not be sent via the pneumatic tube system (PTS). Please be aware that if the pneumatic tube system (PTS) fails during transit of a precious sample (i.e. a sample which cannot be repeated), the material may be unsuitable for histology once retrieved. a) Rectal biopsies for the investigation of Hirschsprung’s disease. The rectal biopsy card should be placed onto a piece of cotton wool moistened with saline in a universal container to prevent drying. The sample must not be immersed in saline, nor should it be placed on dry cotton wool. The request form must clearly state if the report is for :

Pull through (immediate report) or

Urgent acetylcholinesterase (urgency dependent on clinical need). This technical procedure takes approximately 4 hours, if a result is required on the same day the sample should be received by the laboratory before 1.30pm.

Next day acetylcholinesterase Please include your bleep or extension number on which to receive the telephoned report or discussion of the case. b) Liver biopsies Place samples in a small amount of saline in a universal container and hand to a member of Histopathology in person. A portion can be sent away for copper measurement if requested. c) Needle or trucut tumour samples Place samples in Hams F10 culture medium (obtained from Histopathology ext 17264) in a universal container and hand to a member of Histopathology in person.

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d) Large tumour samples and lymph nodes Place samples in a dry specimen container of sufficient size to prevent tissue distortion or damage and deliver to a member of Histopathology in person. Flow cytometry may be undertaken by the laboratory on suitable samples. e) Renal biopsies Please contact a consultant histopathologist to discuss details of the case. f) Needle biopsies of muscle These are collected by a Biomedical Scientist who will attend the procedure and advise on the adequacy of sampling if requested by the clinician. The specimens are placed on filter paper moistened with saline in a disposable Petri dish to ensure that drying does not occur. It is important that the Laboratory be given advanced warning of renal and needle biopsies of muscle in order that arrangements can be made for appropriate technical advice and assistance. g) Open muscle biopsies are usually taken in Theatre. The sample should be placed in a Petri dish with moistened filter paper as above. It must be dispatched to Histopathology without delay by the Theatre porter. , Please handle with care and dispatch to the lab as urgently as tissue is required for urgent frozen section diagnosis. Biomedical Scientists do not attend open muscle biopsies in theatre. As far as possible muscle biopsies should be taken from the vastus lateralis muscle for the purpose of standardisation to permit fibre type proportions to be assessed accurately. Fibre type proportions vary considerably between muscle groups. The sample must not be taken near the myotendonous insertion, and under no circumstances should the specimen be squeezed with forceps. Please contact histopathology if further advice is required. Muscle biopsies for clinical chemistry must be frozen in theatre; please contact Clinical Chemistry with regards to this. h) Neuropathology samples These samples are not dealt with by histopathology at SCH but must be sent directly to the Histopathology department at the Royal Hallamshire Hospital (see section Transport of samples to STH page 16). These samples include:

CSF specimens

Nerve biopsies

Surgical brain tissue


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If these samples are fresh (i.e. not in buffered formalin) they must be delivered by hand direct from the clinical location and without delay to the Histopathology department at the Royal Hallamshire Hospital. However if tumour banking is required, please send sample for freezing and storage to Histopathology SCH (Sample for diagnosis to go directly to RHH). i) Bone marrow trephines Place directly in buffered formalin in a universal container and transport to histopathology laboratory. j) EM samples

Tissue samples – place directly into PG fix (available from histopathology lab) and send to SCH histopathology laboratory.

Blood for Battens – 2mls of whole blood in an EDTA (pink container) or Citrate tube (purple container) and send to histopathology laboratory without delay.

Please be aware of the hazards associated with PG fix (available from the laboratory). k) Cytology samples All samples for cytology should be placed in a sterile container e.g universal (can be obtained from Histopathology lab if required) and handed to a member of histopathology in person before 4.30 pm.

BAL, Please state if fat laden macrophages and / or differential counts are required. Tel ext 17264 for further information.

CSF. These must be sent directly to the Histopathology department at the Royal Hallamshire Hospital.

l) Out-of-hours When specimen is taken out of hours the Consultant Histopathologist may be contacted via the switchboard (0).

URGENT REQUESTS Action required for handling samples which are indicated as urgent is decided by the histopathologist and clinician on a case by case basis. Clinicians should therefore discuss requests for "Urgent" samples with the Histopathologist as soon as possible to agree a course of action to be taken and time scale for report.

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During normal working hours Examination of frozen sections must be pre-arranged with aH, preferably giving at least 24h notice. Please give a contact phone number to which the urgent report will be given. Rectal biopsies for acetyl cholinesterase histochemistry may be reported within 4 hours of receipt when the department is specifically instructed and they are received before 1.30pm, otherwise the procedure will be carried out the following day. The Laboratory must be informed if an urgent result is required. (ext 17246) Outside normal working hours Frozen sections for intra-operative diagnosis or suction rectal biopsies requiring acetyl cholinesterase staining during evenings or weekends can be arranged if necessary through the on-call consultant via the hospital switchboard. Every effort will be made to respond to short notice/urgent requests as quickly as possible. A pathologist will telephone all urgent reports to the requesting clinician, followed by written confirmation.

LIMITATIONS OF RESULTS (Also see section on Uncertainty of Measurement in the General Information) The opinion described in a Histopathology report must be interpreted within the clinical findings and a judgement made. If any Histopathology report contradicts

clinical findings, please discuss the case with the Consultant Histopathologist.

TURNAROUND TIMES The department recognises and aspires to the Royal College of Pathologists recommendations regarding turnaround times where applicable for surgical samples. The department is actively striving to improve the turnaround times for non-surgical sample requests but please note that in certain circumstances the turnaround time may be longer, and on these occasions the service user is at liberty to request an urgent report.

Routine samples not requiring special stains or immunocytochemistry or EM – 5 working days.

Routine samples requiring special stains or immuno – 10 working days.

Muscle biopsies for enzyme histochemistry – 10 working days.

Sample for EM – up to 8 weeks depending upon the service provider turnaround time.


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Inter-operative frozen sections – as soon as possible but between 15 and 30 minutes.

Rectal biopsies for acetylcholinesterase – urgent samples within 4 hours of receipt if received before 1.30pm, otherwise they will be carried out the following day.

Post mortem reports – 6 weeks.

Placenta Investigation Reports- 28 days

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SHEFFIELD DIAGNOSTIC GENETICS SERVICE LOCATION OF THE DEPARTMENT C Floor, Blue Wing Sheffield Children’s NHS Foundation Trust Western Bank SHEFFIELD S10 2TH

CONTACT DETAILS Departmental Director Ann Dalton 53743 Business Development Manager Denise Harris 53641 Head of Laboratory James Steer 17009 Deputy Head of Laboratory Service Andrew Marland 17021 Head of Oncology Kath Smith 17011 Deputy Head of Oncology Rebecca Pollitt 17012 Lead Scientist – Oncology Khalid Tobal 17047 Head of Constitutional Kath Smith 17019 Deputies of Constitutional Richard Kirk 53641 Lead Scientists – Constitutional Duncan Baker 17041

Nick Beauchamp 58038 Miranda Durkie 58038 Mandy Nesbitt 60584

General enquiries 0114 271 7014 Fax Machine 0114 275 0629 Email address [email protected] Website link http://wwwsheffieldchildrens.nhs.uk/SDGS.htm Samples coming via the STH/SCFT pneumatic tube system (PTS) – address 51

ENQUIRIES AND RESULTS Contact can be made by telephone, email, fax or letter during normal working hours. For further information, clinical advice and interpretation contact the relevant Head of Section or the Director as detailed above.



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To contact a member of staff by email use the following formula: [email protected]

LABORATORY OPENING TIMES Normal laboratory opening times: Monday to Friday 9am – 5.30pm Saturday 10am – 11.30am The laboratory does not offer an out of hours service. However, it may be possible to organise analysis of urgent samples outside of these times by prior agreement.

SERVICES PROVIDED We aim to outline the service offered by each group for the guidance of medical, nursing and laboratory staff. The laboratory should be contacted for advice should there be any doubt concerning any of the procedures; some of the tests require discussion with the laboratory before the sample is sent. The most up to date version of the Sheffield Diagnostics and Genetics Service is available on the website (https://www.sheffieldchildrens.nhs.uk/sdgs/). The genetic services are currently organised into two main groups: Oncology and Constitutional. Oncology Cytogenetic, FISH and molecular tests are offered as part of the diagnosis and management of acute leukaemia, chronic myeloproliferative disorders and myelodysplastic syndromes and for a number of specific solid tumours (including sarcomas) and lymphomas. We offer molecular testing by sanger sequencing or next generation sequencing panel testing for specific somatic mutations used to define treatment sensitivity. Please note that at present the service does not cover routine analysis in Non- Hodgkin’s lymphoma (other than those described in the table) or Hodgkin’s disease. Other cases of particular diagnostic value or research interest will be accepted where possible, preferably by prior arrangement. Cytogenetic analysis can be performed on bone marrow, blood or fresh tumour biopsy. We require between 0.25 and 1.0ml of bone marrow aspirate (preferably

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not the final exudate) in 5ml of transport medium containing heparin and antibiotics. This medium is supplied on request from the department and should be stored at +4ºC and kept in sterile containers e.g. universals. In addition, one drop of marrow should be placed in transport medium with colcemid as the marrow is taken. The medium is provided ready for use on request from SDGS, and these instant cultures should arrive at the laboratory within one hour for immediate processing. If blood samples are sent for cytogenetics we require 5-10ml of blood in a lithium heparin tube. Please do not put blood into transport medium. Provided a suitable marrow sample has been sent there is no need for an accompanying blood. Cytogenetic analysis on blood is only possible if there are sufficient immature cells present, as in CML and some acute leukaemias. FISH testing will be performed alone or as an adjunct to cytogenetic analysis for detection or clarification of abnormalities or to exclude/confirm cryptic gene fusions where appropriate. FISH can be carried out on bone marrow, blood, solid tissue biopsy and on certain archive material including paraffin embedded tissue sections (PETS). We carry a large number of FISH probes including those required for the accurate diagnosis of the diseases described above and probes for some lymphomas and sarcomas which are listed in the test tables by disease. This list of probes is regularly updated and many other probes may be obtained if considered of value in patient management. Samples for Multiple Myeloma FISH testing require 2-5ml of Bone Marrow in EDTA, to be received before 4pm on a Thursday to allow plasma cell enrichment by CD138 separation. Outside of these hours or if a sample cannot be sent in EDTA, FISH testing will be attempted on the whole marrow sample. For molecular analysis 2-5ml of blood or bone marrow in K-EDTA (pink or purple tops) is required. Smaller samples can be processed but may not be sufficient for the test required and are more likely to fail. If in doubt please contact the laboratory. Samples should arrive no later than the day after they are taken. Solid tumour samples should preferably arrive on the day they are taken and no later than the following day. Please do not rely on first class post at weekends or bank holidays. Molecular testing and FISH are also available for a number of disorders from paraffin embedded tumour tissue samples.


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For the accumulation of accurate information on the relationship between genetic findings and clinical conditions, it is important to have accurate referral information. Constitutional Please see testing information for a full list of tests. This includes genetic analysis (cytogenetics, FISH, microarrays (arrayCGH) and molecular testing for dosage and/or sequencing or by next generation sequencing panels of patients with learning disabilities, neurodegenerative conditions, connective tissue disorders, infertility, disorder of sexual development, inborn errors of metabolism and haemochromatosis, haemostasis and haemoglobinopathies and also includes fetal testing for the detection of aneuploidy or chromosomal rearrangements in pregnancies that are at a high risk of producing a chromosomally abnormal child. Karyotype analysis is carried out from in vitro culture of blood samples and FISH is offered as an adjunct to classical chromosome analysis when appropriate. For fetal testing of amniotic fluid, chorionic villus or fetal blood samples. Rapid aneuploidy screening by QF-PCR or FISH is offered and abnormalities detectable include trisomy 21, 18 and 13, sex chromosome aneuploidies and triploidy (this rapid service is also offered for newborn babies to detect these abnormalities). This may be is backed up with conventional karyotype analysis or microarray (array CGH) FISH for specific syndromes is not carried out on prenatal cytogenetics samples unless indicated by a family history or to clarify a result from the chromosomal analysis. An exception is the use of the TBX1 probe for the 22q11.2 region. All referrals with heart defects are screened by FISH using this probe as some cases may be associated with deletion in this region. Microarray (arrayCGH) testing is available for patients with developmental delay and/or multiple congenital abnormalities, autistic spectrum disorder, or seizures. This is carried out as a higher resolution alternative to karyotyping. Please note that Fragile X syndrome testing will not be initiated prior to array testing but is available after a normal array result has been issued for patients with a specific clinical query or appropriate maternal family history. 2-3ml venous blood in lithium heparin is required for a blood karyotype. 4ml venous blood in lithium heparin is required for chromosome breakage / fragility testing. 2-3ml venous blood in lithium heparin and 2-3ml of blood in K-EDTA is required for microarray (arrayCGH) testing. Skin biopsy samples from patients

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should be around 1-2mm in diameter, and 1mm in depth, taken from an alcohol swabbed area. The depth is important as dermal tissue needs to be sampled. The sample should be transported in bottles of sterile tissue culture medium (available by request from the laboratory). Sterile saline can be used if no medium is available. If delay in transport is unavoidable, samples should be stored at +4oC. Samples must not be placed in Formalin. In cases of fetal loss, IUD, stillbirth or therapeutic termination due to fetal abnormality, we require a small biopsy of fetal placenta (approx 1cm

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membrane, cord and placenta taken from, at or near the cord origin). We are unable to accept a fetus. Specimens should be placed into sterile tissue culture medium as above. In addition to placental biopsy, when possible, 1-3 ml sample of fetal cord blood in lithium heparin can be successful. (NB Cardiac blood is rarely successful). Blood samples in K-EDTA (pink or purple tops) are received routinely for molecular genetic analysis. Volume should be 2-5ml: smaller samples can be processed but may not be sufficient for the test required and are more likely to fail. DNA can be extracted from a variety of other tissues but if in doubt about the sample size or suitability please contact the laboratory before taking the sample. Certain other diseases, also listed in the back of this booklet, are covered by our consortium partners, to whom samples are forwarded by the laboratory. Tests referred to our consortium partner or to other laboratories can be delayed in reporting due to transfer time and factors beyond the control of this laboratory. Please contact us if the sample is urgent. Molecular prenatal diagnosis should be arranged well in advance if possible to allow time to acquire any relevant test results or samples. Clinical genetics service involvement is essential for all prenatal diagnosis referrals. Reliable prenatal diagnoses require that the initial diagnosis has been clearly established and it is important to appreciate the need for rigorous investigation even when the index case presents in a terminal phase with little hope of useful intervention.

URGENT REQUESTS Turnaround times listed in the test tables are generalised and we will always endeavour to process urgent samples as quickly as possible. Current turnaround times are detailed on the SDGS website. Urgent samples should be clearly


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identified and telephone contact numbers listed in order to report results. In the case of clinical need do not hesitate to contact the laboratory to request an urgent result so that appropriate arrangements can be made.

REQUESTING ADDITIONAL INVESTIGATIONS If further tests are required on samples already sent, this may be possible as cytogenetics samples are stored for a period of between one month and one year before disposal. DNA / RNA samples are stored, as appropriate, on the majority of samples received in the laboratory for the purposes of validation, controls and family studies. If further testing is required contacting the laboratory directly is the most straight forward way to do this.

LIMITATION OF RESULTS (Also see section on Uncertainty of Measurement in the General Information) Cytogenetic results Cytogenetic results from blood samples will be based on the analysis of a minimum of 3 banded cells. The presence of mosaicism for any chromosome abnormality is not routinely investigated by the level of analysis performed unless dictated by the clinical referral reason or suggested by an observation during routine analysis. The standard count for detection of a clone present at greater than 10% level is 30 cells. This is reported in the karyotype comments if carried out. Microarray (arrayCGH) testing will not detect balanced rearrangements or ploidy changes and is limited in detecting mosaicism. The resolution of arrayCGH analysis will be stated on the report. Prenatal reports are based on the analysis of a minimum of three banded cells, and therefore are unlikely to detect mosaicism. It should be noted that the majority of samples sent for prenatal chromosome analysis are taken with a view to screening for common numerical chromosomal abnormalities, particularly Down syndrome. For technical reasons, the quality of structural analysis on such samples is often conducted at a lower level than that which is required to reliably detect small and unexpected chromosomal deletions and other rearrangements. Although many structural chromosomal abnormalities will be detected, those that fall below the limits of resolution of the analysis will be missed.

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For oncology samples a normal cytogenetic result is based on the complete analysis of a minimum of 10 G-banded cells usually with the examination of at least a further 10 cells. The number of cells analysed in abnormal cases or previously abnormal cases may be increased or decreased according to the reason for referral. A normal in situ hybridisation result is based on the exclusion of a given abnormality in a minimum of 100 interphase cells. An indication will be given if minimum standards are not reached. For all cytogenetics analyses the ability to detect subtle, unexpected chromosome rearrangements is governed by the resolution of banding achieved This is intrinsically highly variable. If the quality of the preparation or extent of the analysis performed is not considered adequate for the reason for referral this will be indicated on the report. DNA Sequencing Sensitivity of DNA sequencing is over 95%. Since all mutations are checked in two separate amplicons, if possible by two independent methods, sensitivity is >99%. Rare cases of single nucleotide polymorphisms under the primer binding sites may lead to non-amplification of one allele. The specificity is 100% where the mutation or type of mutation has been previously reported. Where the change is novel, it may be necessary to carry out family studies and it still may not be possible to reach a conclusion regarding pathogenicity. Low Level Mutations In some circumstances it may prove difficult to detect mutations present at a low level, e.g. in cases of mosaicism or mitochondrial heteroplasmy or where there is a mixed cell population due to malignancy. Sensitivity of detection may be tissue-specific and in some cases alternative sample types may be required. Non-paternity An error in the diagnosis of disease status may occur if the true biological relationships of the family members being tested are not as stated. For example, non-paternity means that the stated father of an individual is not the true biological father. Any erroneous diagnosis in a family member can lead to an incorrect diagnosis for other related individuals who are being tested.

CONSENT Samples received in the Genetics laboratory are accepted under the assumption that the patient has consented to genetic testing and to laboratory disposal of


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any remaining sample. This is clearly identified by the information for the referring clinician on the laboratory referral form. When the patient has not consented for disposal by the laboratory, all remaining sample will be returned to the referring hospital for appropriate disposal. To keep return of sample to a minimum, large amounts of tissue should not be sent. DNA (either pure or a crude preparation) is retained from the majority of samples received in the Laboratory for the purposes of validation, controls and family studies. It is important that the patients are aware of this. A consent form covering this and other issues is available. If there are any problems with the storage of samples, please contact the laboratory. The guidelines for consent have recently been revised by the Royal College of Pathologists (September 2011). The changes recommended will be implemented in line with pathology services nationally. Predictive testing in late onset disorders such as Huntington disease or Hereditary Cancer is only available through the Genetic Counselling Service, as is diagnostic testing for dominant disorders where the family implications can be complex, and the issues of consent require detailed discussion and documentation. Predictive testing for adult onset disorders in children lies outside our professional guidelines; in the event of a sample being referred, the referring clinician will be contacted. Carrier testing in children is generally to be avoided until the child is considered Gillick competent. Where it is necessary to exclude the child being affected, the report will not report the genotype but simply “unaffected” if the child is a carrier or normal. The results will be recorded in the lab and be available to the child once they are able to consent. All prenatal testing involving assessment of maternal cell contamination using the Powerplex 16 kit assumes that the appropriate consent has been obtained for the analysis of all chromosomes. If this is not the case the laboratory must be contacted, prior to the prenatal sample being taken, to discuss the matter further. All Other Genetic Disorders For those diseases not available in Sheffield, testing may be available through the UK Genetic Testing Network; access to the Network at present is through the laboratory. Many of the tests sent elsewhere attract a charge. There is a ring-fenced budget for this under the control of the Sendaways group and overseen by the Commissioners. This group meets regularly and all clinicians are welcome to present a request, either in person, by proxy, by letter or by submission of the appropriate form (available from Denise Harris). For further

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information please contact the Head of the Laboratory Ann Dalton, who is also Chair of the Sendaways Group. Tests referred to our consortium partner or to other laboratories can be delayed in reporting due to transfer time and factors beyond the control of this laboratory. Please contact us if the sample is urgent.


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ARRANGEMENTS FOR MICROBIOLOGY, VIROLOGY AND IMMUNOLOGY

There are no Microbiology, Virology or Immunology laboratories on site and these services are provided by Sheffield Teaching Hospitals Trust. Their handbook can be accessed at SCH and is available at: http://nww.sth.nhs.uk/NHS/LaboratoryMedicine/Default.asp?page=1. All Microbiology/Virology services are now provided from the NGH site only.

MICROBIOLOGY Clinical Microbiology Advice There is a Consultant Microbiologist based full time at Sheffield Children’s Hospital (Room E70, Top Floor Orange Wing) who can provide clinical advice. Office extension 17579, Bleep 255. Laboratory Queries For laboratory queries please contact the laboratory at the NGH ext 14777 between the hours of 08:00 –20:00 weekdays, or 08:30 – 16:00 on weekends and bank holidays. NB: Please remember that microbiology specimens can take a considerable length of time to process and should if possible be delivered well BEFORE the end of a normal working day, ideally before 16.00 hrs On Call Service Weekdays 20:00 - 08:00 hrs Weekends 16:00 - 08:00 hrs Bank Holidays 16:00 – 08:00 hrs Outside normal working hours a single Biomedical Scientist is available to process emergency and urgent specimens. Contact must be made with the person on call before sending any urgent specimens for analysis. There is no guarantee that any non urgent work will be processed outside normal working hours. NGH switchboard has a copy of the current out of hours rota.

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Sample Transport to Microbiology (NGH Laboratory Medicine Building) Weekdays 09.00 – 17.00 hrs

Where from Time

Weekdays (09.00-17.00)

Routine

SCH Clinical Chemistry

09.40, 11.10, 13.10, 14.40, 16.00, 17.10

Urgent Taxi arranged via SCH Clinical Chemistry if outside routine pickup times

Notes for urgent samples

Prior to sending, SCH Clinical Chemistry should be alerted that an urgent sample is being sent so that the urgency of the request can be discussed and it can be established whether the sample may be sent by a scheduled taxi or whether an urgent taxi needs to be booked. The sample should then be sent by pneumatic tube system (PTS) (clearly labelled as urgent) or by hand to SCH Clinical Chemistry reception (see Sample Transportation section).

The Microbiology department at NGH must be informed by requestors that the sample is being sent so they can ensure it is dealt with promptly on arrival.

For any enquiries please contact the Microbiology laboratory ext 14777. Out of hours service (including weekday evenings, Saturday, Sunday and Bank Holiday) **Clinical Chemistry are NOT responsible for out of hours transportation arrangements**

Where from Time

Out of hours

Routine A&E

Reception

Sat./Sun./Bank holidays

08.30, 11.30, 14.30, 17.30, 20.30, 22.30

Week nights 17.15, 18.30, 20.30, 22.30

Urgent A&E

Reception

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Notes for urgent samples

Urgent samples should be clearly identified as urgent on the request form.

Contact the on-call Microbiology Biomedical Scientist (via the NGH switchboard) at the same time as sending urgent samples.

Results Authorised Microbiology results are electronically accessible via ward/office computers through the hospital network or directly from the PC desktop ‘ICE’ icon. Passwords can be obtained by contacting the IT helpdesk. Please refer to page 18 for instructions on how to access results. Microbiology specimens over ‘long’ weekends Please ensure that on long bank holiday weekends that sample fridges/boxes on wards/units are regularly inspected, and samples transported as above, to avoid sample deterioration leading to potentially misleading results. Any concerns or comments should be communicated to Duncan Whittaker, Microbiology Departmental Manager, Laboratory Medicine Building, NGH.

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ANTIBIOTIC ASSAYS The following assays are performed by Clinical Chemistry at SCH Gentamicin and Tobramycin -. In most clinical situations these agents are given once daily (every 36 hours in neonates < 7days as per BNF-c). Oncology/Haematology (gentamicin) and Cystic Fibrosis (tobramycin) use approved protocols. The gentamicin dosing guidance can be applied to any group of patients but the tobramycin guidance applies to CF patients only. If the gentamicin dose is once daily, please refer to the Trust guidelines on therapeutic monitoring. If three times daily dosage of gentamicin is used then pre and one hour post levels must be taken. Therapeutic range pre: <2 microgram/mL. One hour post: 5-10 microgram/mL Optimum sample size: Venous blood. 1ml-clotted blood in a plain tube Capillary blood. 1ml-clotted blood in microtubes Note: Venous blood is required for CF patient levels. Samples should be sent to SCH Clinical Chemistry for processing. Where possible out of hours testing should be avoided. The department runs a traditional on-call service whereby the Biomedical Scientist on-call does not have to stay at the hospital. As such notification must be made to the person working on-call if a sample requires analysis. The person on-call may ask questions about the urgency of the bloods in order to plan their workload Vancomycin Pre-dose level 24 hours after 1

st dose (i.e. pre 4

th dose if TDS dosing, pre 5

th

dose if QDS dosing). Sample size and destination as per gentamicin. Pre-dose level should be 10-15 mg/L, unless otherwise specified by Consultant Microbiologist or Pharmacist. During normal lab hours send samples to Clinical Chemistry at SCH for dispatch to NGH Microbiology. “On-call” contact the on-call STH Clinical Chemistry via NGH switchboard and send sample direct to NGH (see page 81) Other antibiotic levels


Laboratory Handbook


Please contact Microbiologist. See following protocols for further information. Guidelines for the use of antibiotics that require assays are available:

- Guidelines for once daily gentamicin in infants and children (CG893) Available from the clinical guidelines section of the SCH intranet pages. A search for ‘gentamicin’ will identify the document.

- Intravenous guideline for cystic fibrosis Available within the Medical Handbook (Section 16.2B)

- Antibiotic doses Available within the Medical Handbook (Section 15.2)

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Laboratory Handbook


VIROLOGY SERVICES The Virology Department is based within Microbiology at the Northern General Hospital. Department Staff and General Information Dr Mohammed Raza (Consultant Virologist) Ext 14526, NGH Dr Alison Cope (Consultant Virologist) Ext 14526, NGH Dr Cariad Evans (Consultant Virologist) Ext 14526, NGH Leeanne Tovey (Virology Department Manager) Ext 14056, NGH Miss Geraldine Ball (Serology Manager) Ext 14531/14056, NGH Virology SpR Office Ext 66477, NGH Laboratory Hours Weekdays 9am - 5.20 pm Saturdays 9am - 12.30 pm Emergency Requests via Virology SpR Ext 66477, NGH or NGH Bleep 537 General Enquiries/ Results Enquiries Ext 14777, NGH On-Call Service Consultant Virologist (via NGH switchboard) provides an advice-only on call service. Please consult annually updated bronchiolitis flow chart for details of RSV testing service. Rapid tests for RSV are carried out by the SCH Haematology Department with results published to ICE. Tests are carried out in batches throughout the day, the times of which are published at the start of each RSV season. Urgent out of hours virology requests other than rapid RSV must be phoned to the on call Consultant Virologist (See above)


Laboratory Handbook


IMMUNOLOGY SERVICES The Immunology Department is based at the Northern General Hospital. Transport to the NGH Immunology department is by STH-arranged van collections organised by the NGH Transport Manager (Ext 14701) and Campuslink. The van visits various laboratories and GP surgeries and calls for samples to the NGH at approximately 10:30 am and 2:30 pm, Monday to Friday. Outside of these times Monday to Friday, samples can also be transported by the CampusLink taxi sample shuttle at 09:40, 11:10, 13:10, 14:40, 15:40 and 16:00. Also see section 6.2 of the Paediatric Medicine pages in the Guidelines for SC(NHS)FT Medical Staff Combined Book for immunology investigations’ http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/documents/GUIDELINES_HANDBOOK/2007/index.htm Department Staff and General Information Dr William Egner (Consultant) Ext 115349, NGH Dr Egner’s secretary Ext 15705 Kevin Green (Lead Laboratory Manager) Ext 15707, NGH Mr Green’s secretary Ext 15706 Immunology enquiries Ext 15552/69196 Laboratory Hours Weekdays 9.00am - 5.00 pm Results, from April 2012 no printed reports will be sent out. Authorised Immunology results are electronically accessible via ward/office computers through the hospital network or directly from the PC desktop ‘ICE’ icon. Passwords can be obtained by contacting the ICE Administrator (Ext 53268). Please refer to page 18 for instructions on how to access results. IM

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http://nww.sch.nhs.uk/Health%20Services%20Management%20-%20SCH/documents/GUIDELINES_HANDBOOK/2007/index.htm


Laboratory Handbook


CSF SAMPLES Volume of CSF required for specific tests (paediatric samples) 1 BEFORE you take the CSF -

∙ Decide which test you require

∙ Calculate the volume of CSF this will need.

∙ Work out the number of drops that this will be.

Regardless of the size of needle used, 1ml of CSF is equivalent to 20 drops. Remember that all volumes given are the minimum required, so extra drops are always useful. 2 For MICROBIOLOGY investigations - See table for volumes required.

∙If the CSF is bloodstained, take the volume you require into three

screw-topped universal containers (these have a conical bottom). Number them 1,2,3.

∙If the CSF is clear, take the volume into a single universal container.

DO NOT use the flat bottomed sputum pots for collecting CSF as they cannot be centrifuged and fluid will be lost transferring to a universal container.

3 For CLINICAL CHEMISTRY INVESTIGATIONS -

∙Glucose and/or Lactate: take 4-5 drops into a paediatric fluoride-

heparin tube.

∙Protein: take 4-5 drops into a paediatric 1ml plain tube/universal 25mL.

Blood stained samples will elevate results!

∙Serine and glycine 8-10 drops into paed 1mL plain tube.

*Please label these tubes by hand


Laboratory Handbook


4 Put the tests that you require in ORDER OF PRIORITY on the request form, so that we can allocate CSF accordingly. This is VERY important for very small volumes.

5 Transport specimens to the laboratory without delay: Protein, glucose

and lactate to the Clinical Chemistry at SCH, all other bottles via the pneumatic tube system (PTS) to Microbiology at RHH. Please ensure that porters and nurses etc are instructed to not send the sample for protein/glucose to the NGH along with the sample for C&S

6 If the specimen is to be examined out of normal working hours,

ALWAYS inform the relevant biomedical scientists on duty.

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Laboratory Handbook


All volumes given are the minimum required

INVESTIGATION Volume of CSF

Number of Drops

Additional blood sample required

Microbiology

Culture (bacterial/fungal) Cell count Gram film Indian ink film (if indicated)

0.5ml minimum

10 NO

Z-N film Mycobacterial culture

0.5ml minimum

10 NO

Cryptococcal antigen 0.5 ml 10 YES

PCR 0.25 ml

minimum 5 YES

Virology 0.5 ml 10 YES

Syphilis Borrelia Leptosspira Toxoplasma

0.25ml for each test

5 for each test

YES

Clinical Chemistry

Glucose 0.25 ml 4-5 YES

Protein 0.25 ml 4-5 NO

Lactate 0.25 ml 4-5 NO

Serine Glycine 0.25 ml 4-5 YES

NB The plain 1 ml bottles issued by the laboratory for sending CSF samples for protein estimation must only be used for this purpose. These bottles are non-sterile and are not suitable for M, C & S requests. They should also not be used for blood samples as this results in insufficient sample being collected - please use the 1ml or 5ml labelled bottles supplied to the ward.


Laboratory Handbook


SPECIMEN CONTAINERS Please refer to the A-Z Laboratory test listing table for details of the type of specimen required for each test.


Laboratory Handbook


PINK

Paediatric


Laboratory Handbook



Laboratory Handbook


A-Z LABORATORY TEST/CONDITIONS LIST

The table on the following pages gives an alphabetical list of analyses provided by either the laboratories at SCH or related laboratories giving details of specific sample requirements and where they are analysed. For tests carried out by ISO 15189 accredited laboratories at SCH, the tests listed are included in the accreditation schedule unless otherwise stated. For all tests analysed at SCH, the table also shows the expected turnaround time (TAT) in routine situations. Turnaround times for histology samples can be found in the Histopathology section. Further information on analyses referred to STH can be found in the STH Laboratory Medicine Handbook @ http://nww.sth.nhs.uk/NHS/LaboratoryMedicine/Default.asp?page=1.

Lab to send to codes CC Clinical Chemistry HP Histopathology CCM Clinical Chemistry Metabolic Laboratory POCT Point of care test (for CC in exceptional circumstances) H Haematology and Blood Bank SDGS Sheffield Diagnostic Genetics Service

Referral lab codes BCH Birmingham Children’s Hospital NAT National Hospital Neurology and Neurosurgery BCITYH Birmingham City Hospital NEURO University College London, Institute of Neurology BMU Biolab Medical Unit, London NGH Northern General Hospital BUH Birmingham University Hospital NHSBT NHS Blood and Transplant BRI Bristol Royal Infirmary NRVI Newcastle Royal Victoria Infirmary CCFE Chalfont Centre For Epilepsy PRU Protein Reference Unit, Sheffield CHILD University College London, Institute of Child Health RBH Royal Brompton Hospital CHURCH Churchill Hospital, Oxford RDGH Rotherham District General Hospital GEOR St George’s Hospital, London RHH Royal Hallamshire Hospital GRI Glasgow Royal Infirmary SAS centre Supra – Regional Assay Centre GUY Guy’s and St Thomas’ Hospital, London SGH Southampton General Hospital JAMES St James’s University Hospital, Leeds SOUTH Southmead Hospital, Bristol KING King’s College Hospital, London SRH Salford Royal Hospital LLAN Llandough Hospital, Cardiff TROP Centre for Tropical Medicine and Global Health, Oxford LRI Leicester Royal Infirmary UHSM University Hospital of South Manchester LSTM Liverpool School of Tropical Medicine WILL Willink BGU, Central Manchester University Hospitals MCH Manchester Children’s Hospital


Laboratory Handbook


Test Specimen

type Collection

type Tube Volume TAT Notes/Comments

Lab to send to

Referred to

Acid-base (blood gas) Blood Arterial Venous

Siemens Rapidlyte balanced heparin syringe (3ml)

0.8mL ≤10min Do not use non- heparinised Plastipaks! Mix thoroughly by rotation. See pH, pCO2, pO2, base excess and bicarbonate.

CC (POCT)

-

Acid-base (blood gas) Blood Capillary Heparinised capillary

0.10mL ≤10min CC (POCT)

-

Acid Lipase /Esterase - - - - - Refer to White cell enzyme

- -

Acid Glycoprotein (Orosomucoid) Blood Venous S. Gel 2ml - - CC NGH

ACTH (Adrenocorticotrophic hormone) Blood Venous EDTA 5ml (1ml = min)

- Bleep duty biochemist prior to collection 095. Needs to be received by lab within 4hrs of collection.

CC RHH

Acute Lymphoblastic Leukaemia (ALL)/BCR-ABL

Blood/Bone marrow

- EDTA 0.5-5ml 2-4 weeks

Must be sent to the laboratory immediately

SDGS -

Acute Lymphoblastic Leukaemia (ALL) (+/- FISH)

Bone marrow /leukaemic blood

- Universal with 5-10ml of transport medium /Li Hep tube

0.25-1ml /5-10ml

10 days - SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Acute Myeloid Leukaemia (AML) (+/- FISH) Bone marrow /leukaemic blood


0.25-1ml /5-10ml

10 days - SDGS -

Acute Myeloid Leukaemia /AML/ AML-M2/AML-17

Blood/Bone marrow



SDGS -

Acute Myeloid Leukaemia /AML/ Flt3/NPM1 mutation screen

Blood/Bone marrow

- EDTA 0.5-5ml 7 days - SDGS -

Acute phase reactants Blood Venous S. Gel 2ml - - CC NGH

Acute Promyeloic Leukaemia (APL)/AML M3/AML-17

Blood/Bone marrow



SDGS -

ADAMTS13 deficiency (thrombotic thrombocytopenic purpura)

Blood Venous EDTA 0.5-5ml 8 weeks - SDGS -

Adrenoleukodystrophy (ALD) (X-linked) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Acyl carnitine profile Bile - Guthrie card Two spots

4-6 weeks

PM samples CCM -

Acyl carnitine profile Blood Venous Li Hep plasma Serum

0.5ml 5-14 days

(PM samples TAT 4-6 weeks)

CCM -

Acyl carnitine profile Blood Spots Venous Guthrie card (Li Hep - whole blood)

Two spots

5-14 days

(PM samples TAT 4-6 weeks)

CCM -

Acyl carnitine profile CSF - Plain tube 0.1ml 4-6 weeks

PM samples CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Adenosine Deaminase (ADA) PNP Blood Venous EDTA 2.5ml - - H GUY

Adrenal cortical antibodies Blood Venous S. Gel 2ml - - CC NGH

Adrenaline / Noradrenaline Blood Venous Li Hep plasma

2ml 2-4 weeks

Send on ice immediately

CC RBH

Adrenalin Urine 24 hrs Bottle contains 10-30 mls H2SO4

10ml - - CC NGH

Adrenoleucodystrophy (ALD) gene mutation Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Alanine aminotransferase ALT, SGPT Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Albumin Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Alcohol (Ethanol) Blood Venous Fluoride Hep - 4h Contact lab to arrange analysis

CC -

Aldosterone Blood Venous Li Hep plasma

2ml - Send to lab within 2h of collection

CC SAS centre

Alkaline phosphatase (ALP) Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Alkaline phosphatase (ALP) isoenzymes Blood Venous /capillary

S. Gel 0.5ml 4h Only send if total ALP elevated

CC RHH

ALK Breakapart (2p23) Paraffin embedded tissue biopsy

- - - 1-2 weeks

Contact lab prior to referral

SDGS -

Alpha-1-antichymotrypsin - - - - - See acute phase reactants

CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Alpha-1-antitrypsin - - - - - See acute phase reactants

CC -

Alpha fetoprotein (AFP) Blood Venous S. Gel 0.5ml - - CC NGH

Alpha Subunit Blood Venous S Gel 0.5ml - - CC BUH

Alpha-thalassaemia Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Alport Syndrome sequencing panel Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Aluminium Blood Venous Acid washed plain tube

2ml - Contact lab prior to collection. Do not separate.

CC NGH

Alveolar rhabdomyosarcoma PETS 2x4u sections on slides

- - - 14 days - SDGS -

Amino Acids Blood Venous or capillary

Li Hep plasma (serum / fluoride OK)

1ml 2 weeks - CCM -

Amino Acids Blood Spots Venous or capillary

Guthrie card (Li Hep - whole blood)

Two spots

1 week Known patient monitoring only

CCM -

Amino Acids CSF - Plain tube (fluoride OK)

0.2ml 1 week Paired plasma required

CCM -

Amino Acids Hair - Plain universal / specimen bag

- 2 months

Contact lab prior to collection

CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Amino Acids Urine Random / 24 hrs

Plain universal

10ml 5 - 14 days

Do not use Z10 containers for Clinical Chemistry samples

CCM -

Aminophyline (Theophylline) Blood Venous / capillary

Li Hep plasma

0.5ml - - CC RHH

5 Aminosalicylic Acid Blood Venous S Gel 2 ml - - CC NGH

Amiodarone + Desethylamiodarone Blood Venous

S Gel or Li Hep plasma

1 -2 ml - - CC LRI

Ammonia Blood Venous / Arterial

Li Hep 0.5ml <1hr Send on ice. No serum

CC -

Amylase Blood Venous / capillary

Li Hep plasma

0.5ml 4h - CC -

AMylotrophic Lateral Sclerosis and Dementia Next Generation Sequencing Panel

Blood Venous EDTA 0.5-5ml 16 weeks

- SDGS -

Anaplastic large cell lymphoma ALK positive PETS 2x4m sections on slides

- - - 14 days - SDGS -

Androgen Insensitivity Syndrome (Testicular Feminisation)

Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Androgen metabolites Urine 24hr Plain bottle - - 24hr collection preferred but will accept 20ml spot samples, absolute min volume 2 ml.

CC KING

Aneuploidy FISH test Amniotic Fluid Sample

- Sterile Universal

2-5ml 2-3 days

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

ANF (Anti Nuclear Factor) Blood Venous S. Gel 2ml - - CC NGH

Angiotensin converting enzyme (ACE) Blood Venous S. Gel 2ml - - CC RHH

Anti-phospholipid antibodies Blood - - - - See Auto immune antibodies

CC NGH

Anti-phospholipid antibodies Blood Venous Citrate or plain

- - See coagulation studies. This test is for Haematology patients only unless previously approved by the Haematology Consultants.

H RHH

Anticonvulsants Blood - - - - See individual drugs

CC -

Anti -DNA antibodies Blood Venous S. Gel 2ml - - CC NGH

Anti Diuretic Hormone (ADH) Blood Venous Li Hep plasma

2ml - Separate freeze within 30 mins

CC SAS centre

Anti-Gliadin antibodies Blood Venous Plain tube serum

2ml - - CC NGH

Antimicrosomal antibodies Blood Venous S. Gel 2ml - - CC NGH

Anti-mullerian hormone Blood Venous Plain tube 2ml - - CC RHH

Anti-neutrophil abs (not ANCA) Blood Venous S. Gel 1ml - By arrangement with NHSBT Bristol only

H NHSBT Bristol

Anti nuclear factor(ANF) Blood Venous S Gel 2ml - - CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Antithrombin Deficiency Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Anti-thrombin III Blood Venous Citrate 2.5ml Discuss See coagulation studies

H RHH

Anti-Xa (for low molecular weight heparin and unfractionated heparin control)

Blood Venous (preferable). Capillary sample acceptable (for LMWH) if venous access difficult but capillary sample bottle needs to be obtained from the Haem lab.

Citrate 1.0ml Discuss D/W Haematology SpR or Consultant if require information on when to take the sample. see Coag studies

H -

Apolipoprotein E (APOE) Blood Venous EDTA 0.5-5ml 6 weeks - SDGS -

APTT Ratio (for unfractionated heparin control)

Blood Venous Citrate 1.0ml 2h Contact Haem Consultant. See Coag studies.

H -

Array CGH (see CGH) - - - - - - - -

Arsenic Blood Venous EDTA 5ml - Exclude fish from diet 5d prior to test

CC SAS centre, Guildford


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Arsenic Urine Early morning

Plain universal

- - Exclude fish from diet 5d prior to test


Ascorbic Acid in leucocytes Blood Venous EDTA 5ml - Bleep duty biochemist prior to collection 095

CC RHH

ASOT (Anti-Streptolycin O Titre) Blood Venous S.Gel 2ml - - CC NGH

Aspartate amino transferase (AST) Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Ataxia Next generation sequencing panel (see hereditary ataxia and migraine panel)

SDGS -

Autoimmune Antibodies Blood Venous S. Gel 2-3ml - - CC NGH

B12 - vitamin - - - - See Haematinic assay

CC -

Barbiturates (overdose) Phenobarbitone Blood /random urine

Venous Li Hep plasma/ plain universal

2ml - - CC NGH

Barbiturates (Theraputic) Blood Venous /capillary

Li Hep 1ml - Trough after 14d of constant therapy

CC RHH

Batten’s Disease (Electron Microscopy) Blood Venous EDTA 2mls 6 weeks If enzyme assay required contact duty Biochemist on bleep 095 prior to collection to obtain sample requirements

HP RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Base Excess (calculated) Blood Arterial / Venous


0.8mL ≤10min Do not use non- heparinised Plastipaks. Don’t let sediment. Mix thoroughly by rotation.

POCT (CC)

-

Base Excess (calculated) Blood Capillary Heparinised capillary

0.10mL ≤10min Add capillary closing caps. Mix thoroughly by rotation.

POCT (CC)

-

Bernard-Soulier syndrome (GP1BA, GB1BB, GP9)


- SDGS -

Beta HCG (? pregnant) Blood Venous /capillary

S. Gel 1ml - Min 200 µl serum CC RHH

Beta HCG (? Tumour marker) Blood Venous / capillary / arterial

S. Gel or plain

1ml - Send with AFP and placental ALP

CC NGH

Beta-thalassaemia Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Actual Bicarbonate (calculated) – blood gas analyser

Blood Arterial / Venous



POCT (CC)

-


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Actual Bicarbonate (calculated) – blood gas analyser

Blood Capillary Heparinised capillary


POCT (CC)

-

Bicarbonate (total carbon dioxide) Blood Venous /capillary

Li Hep 0.5ml 4h (Plasma) CC -

Bile Salts / Acids Blood Venous Li Hep plasma

1ml 4 weeks Not for cholestasis in pregnancy

CCM -

Bile Salts/Acids Urine Random Plain universal

5ml 4 weeks Not for cholestasis in pregnancy

CCM -

Bilirubin (conjugated including total paediatric)

Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Biotin - - - - - Bleep duty biochemist 095

CC BMU

Biopterins - - - - - Bleep duty biochemist 095

CC BCH

Biotinidase Blood Venous Li Hep plasma

1ml 5-14 days

- CCM -

Bladder cancer PETS 2x4m sections on slides

- - - 14 days - SDGS -

Blood count - - - - - See FBC H -

Blood gases - - - - ≤10 mins

See Acid -base POCT (CC)

-


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Blood group & crossmatch Blood Venous EDTA 2.5ml Dependent on clinical need. Routine requests are 2 days for a group and save

Telephone the laboratory where request is urgent. Must use blood bank form. Sample must be fully labelled. See detailed section ‘Requirements for Blood Bank’ and ‘Baby group and crossmatch samples for Blood Bank Sample’ which describe infant requests and special needs

H Difficult cases referred to NHSBT, Sheffield

Blooms syndrome Blood Venous Li Hep 2-3ml 28 days Please inform the laboratory prior to sample dispatch

SDGS -

Bone Biopsy for bone diseases Bone biopsy - - - See Histo section

Send direct to Histo RHH

Histo RHH

RHH

Bone markers (Bone Specific Alkaline Phosphatase)

Blood Random urine

Venous S. Gel/ plain universal

2ml blood 10ml urine

- Allow to clot. Separate within 4 hrs of collection

CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Bone marrow biopsy Formalin fixed - See Histopath section for further details

- See Histo section

Use formalin safety specimen bag

HP -

Bone marrow investigations Bone marrow Discuss Discuss Discuss Discuss Contact cons Haem. See detailed section

H -

Bone profile Blood Venous / capillary

Li Hep plasma

0.5ml 4h Calcium, albumin, phosphate, alkaline phosphatase

CC -

BRAF (V-raf murine sarcoma viral oncogenes homolog B1) p.Val600Glu mutation

PETS 8x10m sections in universal

- - - 1-2 weeks

- SDGS -

Brain Biopsy Brain biopsy - - - See Histo section

Send direct to Histo RHH. If fresh must be delivered by hand.

- RHH

Breast Cancer - HER2 FISH PETS 2x4m sections on slides

- - - 14 days - SDGS -

Bromide Blood Venous/ capillary

Lith hep/ S Gel

1 ml - - CC NGH

Bruck Syndrome (PLOD2) Blood Venous EDTA 0.5 -5ml 2-8 weeks

- SDGS -

Burkitt lymphoma PETS 2x4m sections on slides

- - - 14 days - SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

C peptide Blood - - - - See Insulin CC RHH

C- reactive protein CRP Blood Venous / capillary

Li Hep plasma

0.5ml 4h - CC -

C1 esterase inhibitor Blood Venous S. Gel 2ml - - CC NGH

C3 conversion Blood Venous EDTA 2ml - - CC NGH

C3 nephrotic factor Blood Venous / capillary

S. Gel 2ml - - CC NGH

C4 Blood Venous / capillary


Caeruloplasmin Blood Venous S. Gel 2ml - Min 200µl serum CC NGH

Caffeine Blood Venous / capillary

Li Hep plasma

0.5ml 7 days Assayed weekly on Tuesday

CC -

CA125 Blood Venous S Gel 2ml - - CC NGH

Calcitonin Blood Venous EDTA or serum

3-5ml - Bleep duty biochemist prior to collection 095

CC NGH or SAS centre

Calcium (ionised) Blood Arterial / Venous



POCT (CC)

-

Calcium (ionised) Blood Capillary Heparinised capillary

0.10mL ≤10min Mix thoroughly by rotation.

POCT (CC)

-

Calcium (total) Blood Venous / capillary

Li Hep plasma

0.5ml 4h - CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Calculi (stones) Stones - - - - - CC LRI

CALR Exon 9 mutation screen (?PMF and ?ET)

Blood/Bone Marrow

Venous EDTA 0.5-5ml 2 weeks - SDGS -

Carbamezapine (Tegretol) Blood Venous / capillary

Li Hep plasma

0.5 ml - - CC RHH

Carbon dioxide (total) Blood - - - - See bicarbonate CC -

Carbon monoxide Blood Venous / capillary

Heparinised syringe/capillary

- - - POCT (CC)

-

Carboxyhaemoglobin (COHb; reported as %Hb) – blood gas analyser




POCT (CC)

-

Carboxyhaemoglobin (COHb; reported as %Hb) – blood gas analyser


0.10mL ≤10min Mix thoroughly by rotation.

POCT (CC)

-

Cardiolipin Blood Venous S. Gel 2 ml - - CC NGH

Cardiolipin (For Barth Syndrome) Blood Venous EDTA 1-3ml - Send Mon-Thur only

CC BRI

Carotene Bllood Venous Li Hep /S Gel 5ml - Protect from light CC RDGH

Carnitine See Acylcarnitine CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Carnitine Urine Random / 24 hrs

Plain universal

10ml 5-14 days

Do not use Z10 containers for Clinical Chemistry Samples

CCM -

Carnitine Acylcarnitine Translocase (CACT) Deficiency

Blood or Fibroblasts

Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Carnitine Palmitoyl Transferase Type2 (CPT2) Deficiency



- SDGS -

Carnitine Palmitoyl Transferase Type2 Fibroblasts - - - 6-8 weeks

- CCM -

Carotenoids - - - - - See Vitamin A CC -

Cartilage-associated protein (CRTAP) – autosomal recessive OI


- SDGS -

Catecholamine metabolites Urine - - - - See VMA & VHA CCM -

Catecholamines - - - - - See adrenaline & nor-adrenaline

CC NGH

CEA (carcinoembryonic antigen ) Blood Venous S Gel 2 ml - - CC NGH

CBCL/CTCL / Skin lymphoma/ mycosis fungoides (IgH or T cell gene rearrangements)

Paraffin embedded tissue biopsy

- - 5 micron unmounted sections

2-8 weeks

- SDGS -

CD34+ cell count Blood Venous EDTA 2.5ml Discuss Contact consultant haematologist prior to collection

H -

Cerebral AD Arteriopathy with Subcortical Infarcts & Leukoencephalopathy - CADASIL


- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

CGH/microarray Blood Sample Venous EDTA/Li Hep 2-3ml 6-12 months

- SDGS -

Chimerism/pre or post bone marrow/stem cell transplant (BMT/SCT)/donor for BMT/SCT/matched unrelated donor (MUD) – Sex matched (Powerplex)

Blood/Bone marrow


Chimerism/pre or post bone marrow/stem cell transplant (BMT/SCT)/donor for BMT/SCT/matched unrelated donor (MUD) – Sex mismatched (FISH)

Blood/Bone marrow


Chitotriosidase Blood Venous EDTA 2-5ml - - CC WILL

Chloride Blood Venous / capillary

Li Hep plasma

0.5ml 4h - CC -

Chloride (blood gas analyser) Blood Arterial / Venous / Capillary

Siemens Rapidlyte balanced heparin syringe (3ml) or capillary closing caps.

0.8mL syr. 0.10mL cap.

≤10min syr. ≤10min

cap.

Do not use non- heparinised containers. Mix thoroughly by rotation.

POCT (CC)

-

Chloride Sweat - - - - See sweat test CC -

Cholestanol Blood Venous Li Hep or serum

1ml 4 weeks - CCM -

Cholesterol Blood Venous / capillary

Li Hep or serum

0.5ml 4h Fasting sample CC -

Cholinesterase Blood Venous EDTA 2-5ml - - CC SOUTH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Chromogranin A Blood Venous S. Gel 2-3ml - Part of standard gut hormone profile

CC NGH

Chromosome – Adult (with or without FISH) Blood

Venous / capillary

Li Hep 2-3ml

28 days - SDGS -

Chromosome –Child (with or without FISH) Blood Venous / capillary

Li Hep 1-2ml

28 days - SDGS -

Chromosome –Neonate Blood Venous / capillary

Li Hep 0.5 – 1ml*

10 days * smaller samples can be attempted but may reduce the likelihood of a successful result

SDGS -

Chromosome (with or without FISH) PRENATAL

Amniotic Fluid sample

- Sterile universal

10-20ml 14 days - SDGS -


CVS - Sterile universal in transport medium

3-4 fronds

14 days CV direct usually next working day.

SDGS -


Fetal blood cordocentesis

- Li Hep 0.5-1ml

10 days - SDGS -

Chromosome (with or without FISH) POSTNATAL

Cord blood - Li Hep 1-3ml

10 days - SDGS -

Chromosome (with or without FISH) FETAL LOSS

Placental biopsy at cord insertion sire, fetal membrane, villi, cord biopsy.

- Sterile tissue culture medium pots

<1cm cubed

28 days - SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Chromosome (with or without FISH) Skin biopsy - Sterile tissue culture medium pots

1-2mm cubed

2-3 weeks

- SDGS -

Chromosome (with or without FISH) Solid Tumour Biopsy

- Universal with 5-10ml of transport medium

<1cm cubed

2-3 weeks

- SDGS -

Chronic Lymphoproliferative Leukaemia (CLL) - FISH

Bone marrow - Universal with 5-10ml of transport medium

- 28 days - SDGS -

Chronic Myeloid Disease (CML) karyotyping & BCR ABL1 FISH

Bone marrow /leukaemia blood


0.25-1ml BM or 1ml BM/VB

28 days Urgent samples have a TAT of 14 days. See SDGS section

SDGS -

Chronic Myeloid Leukaemia (CML)/leukemic BCR-ABL1 quantification

Blood/Bone marrow

- EDTA 0.5-5ml 14 days Must be sent to the laboratory immediately

SDGS -

Cleido Cranial Dysplasia Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Clonazepam Blood Venous Fluoride 1ml - - CC RHH

Coagulation factor assay/other studies Blood Venous. Citrate Contact lab

Discuss Fill level is crucial. See detailed section for description of tests available

H Some to RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Coagulation screen Blood Venous. NB not capillary

Citrate 1.0ml 2h Fill level is crucial. See Haematology Specialist Coagulation assays/studies. Section for description of tests, anticoagulation therapy control and D-Dimers in ?DVT

H -

Coeliac screen - - - - - See anti-glyadin antibodies

CC -

Cold Agglutinins Blood Venous EDTA & plain tube

1ml EDTA plus >2ml plain tube

1 day Samples must be transported to the laboratory while still warm

H -

Collagen 6 related myopath panel


- SDGS -

Collagen screen Blood Venous S. Gel 2ml - - CC NGH

Colorectal Cancer (HNPCC/FAP) Extended Gene Panel

Venous EDTA 0.5-5ml 12 weeks

- - SDGS -

Complement C3, C4 only Blood Venous EDTA/ S. Gel 2-3ml - State on form whether plasma or serum. If left for longer than 1 night -freeze

CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Complement CH50, APCH50 functional activity of either pathway

Blood Venous S. Gel 2-3ml - Send within 2hrs of collection.

CC NGH

Congenital Bilateral Absence of Vas Deferens (CBAVD)


- SDGS -

Congenital thrombotic thrombocytopenic purpura (ADAMTS13 deficiency)


- SDGS -

Copper Blood Venous / capillary

Li Hep plasma

0.75ml - 2ml venous sample required for zinc, caeruloplasmin

CC NGH

Copper Liver biopsy Fresh - - - - See Histopathology section

HP -

Cortisol Blood Venous /capillary

Li Hep, 0.5 ml min

4-24 h - CC -

Creatinine Blood Venous / capillary

Li Hep, S.Gel plasma

0.5ml 4h - CC -

Creatine kinase CK (or Creatine phosphokinase CPK)

Blood Venous / capillary

Li Hep plasma

0.5ml 4h - CC -

Cri-du-chat syndrome Blood Venous Li Hep 2-3ml 28 days - SDGS -

Crigler-Najjar Syndrome types I and II Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Cryoglobulins Blood Venous EDTA and S.Gel

2ml of each

- Contact CC Lab.

Keep at 37C

CC NGH

Crossmatch Blood - - - - See Blood group & crossmatch

H -

CRTAP (autosomal recessive OI) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

CSF Amino Acids CSF - Plain 0.5ml 1week Require paired plasma, contact lab if NKH suspected

CSF cytology CSF - Plain Universal

- See Histo section

Send direct to Histo RHH

- RHH

CSF cell count CSF - Plain x 3 15 drops x 3

5h Haemic cell count. Ensure 3 vials are labelled 1,2 & 3

H -

CSF glucose CSF - Fluoride 0.5ml 4h - CC -

CSF protein CSF - Plain 0.5ml 4h - CC -

Cutis Laxa sequencing panel Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Cyanide Blood Venous Fluoride Whole blood

1ml - - CC NGH

Cyclosporine (Ciclosporin) Blood Venous / capillary

EDTA 0.5ml 2-24h Analysed Tue and Fri, urgent requests only at other times. Must be received before 15.00 for analysis that day

CC -

CYP2C19 Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

CYP3A4 Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Cystic fibrosis Blood or Guthrie spots


- SDGS -

Cystine Urine Random / 24 hrs

Plain universal

10ml 5-14 days

- CCM -

Cystine in leucocytes Blood - Li Hep 3ml - Please contact Duty Biochemist

CC JAMES

D-Dimers (DIC) Blood Venous Citrate 1ml Dependent on Clinical Urgency

Fill level is critical H -

D-Dimers (VTE) Blood Venous Citrate 1ml Dependent on Clinical Urgency

Discuss with clinical Haematology team prior to request

H RHH

7-Dehydrocholesterol Blood Venous Li Hep plasma

1ml 4 weeks - CCM -

7-Dehydrocholesterol (Prenatal test for Smith Lemli Optiz Syndrome)

Amniotic fluid 10mls 5 days -

8-Dehydrocholesterol Blood Venous Li Hep plasma

1ml 4 weeks - CCM -

Delta F508 - - - - - See Cystic Fibrosis SDGS -

Dentatorubral pallidoluysian atrophy (DRPLA) Blood Venous EDTA 0.5-5ml 2-6 weeks

- SDGS -

Dermatofibrosarcoma protuberans PETS 2x4m sections on slides

- - - 14 days - SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

DHEAS Blood Venous/ capillary

Serum/ plasma

200µl - - CC RHH

DHR Blood Venous EDTA whole blood

0.5ml - Plus 0.5ml EDTA Control patient

CC NGH

DHT ( Di hydrotestosterone ) Blood Venous Li Hep/S.Gel 500µl - - CC SAS centre

Diamond Blackfan Anaemia (RPS19) Blood - EDTA 0.5-5ml 2-8 weeks

- SDGS -

Diamond Blackfan Anaemia (dosage testing by MPLA)

Blood - EDTA 0.5-5ml 8 weeks

- SDGS -

Diazepam (with nordiazepam) Blood Venous Li Hep/S. Gel 2ml - -

CC RHH

Dibucaine number - - - - - See pseudocholin’ase

CC -

Differential WBC - - - - - See FBC H -

Digoxin Blood Venous / capillary

S. Gel 1 ml - Ideally 6-8hrs post dose

CC RHH

Dimethylglycine Urine Random Plain universal

2ml 4-6 weeks


CCM -

Direct anti-globulin test (DAT, DCT) Blood Venous /capillary

EDTA 0.5ml 24hours Use blood bank form.

H -

Dopamine - - - - - See Adrenalin CC RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Dopa-responsive dystonia (Segawa syndrome), dominant


- SDGS -

Dopa-responsive dystonia, recessive Tyrosine hydroxylase deficient


- SDGS -

Down syndrome – PRENATAL (with or without FISH)

Amniotic fluid - Sterile universal

10-20ml 10-14 days*

*Rapid FISH test usually reported the

next working day

SDGS -

Down syndrome – POSTNATAL - - - - - See chromosome - -

Dystonia 1 or Idiopathic Torsion Dystonia, dominant


- SDGS -

Dystonia and parkinsonism Next Generation Sequencing Panel


- SDGS -

Dystrophia myotonica (DM) Blood Venous EDTA 0.5-5ml 2 weeks - SDGS -

EBV or CMV PCR Blood Venous EDTA 2ml - - CC NGH

EGFR (exons 18-21) PETS 8x10μ sections in universal or tumour block

- - - 7 days EGFR testing from required, please contact laboratory

SGDS -

Ehlers-Danlos Classical (COL5A1 and COL5A2)

Blood Venous EDTA 0.5-5ml

2-8 weeks

- SDGS -

Ehlers Danlos Next Generation Sequencing Panels (Vascular, Classic and Kyphoscoliotic)


- SDGS -

Ehlers-Danlos Syndrome Classical (COL5A1)- Null allele

Skin biopsy/cultured fibroblasts

- - - 2-8 weeks

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Ehlers-Danlos Syndrome-hypermobile (TNXB)


- SDGS -

Ehlers-Danlos Syndrome-KMH (FKBP14) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Ehlers-Danlos Syndrome-Kyphoscoliotic (PLOD1)


- SDGS -

Ehlers-Danlos Syndrome-musculocontractural (CHST14)


- SDGS -

Ehlers-Danlos Syndrome – vascular (COL3A1)

Blood Venous EDTA 0.5-5ml

2-8 weeks

- SDGS -

Ehlers-Danlos Syndrome arthrochalasic (COL1A1 and COL1A2)

Blood Venous EDTA 0.5-5mn 2-8 weeks

- SDGS -

Electrolytes Blood Venous/ capillary

Li Hep plasma

0.5ml 4h See potassium, sodium , chloride, bicarbonate

CC -

Electron Microscopy Various Biopsy Tube containing gluteraldehyde fixative (available from Histo)

Small biopsy

8 wks Fixative should be stored at 4ºC and applied within 5 mins. Deliver promptly to Lab.

HP RHH

Endomysial Antibodies Blood Venous/ capillary

S Gel 2ml - - CC NGH

Enzymes - - - - - See individual enzymes

CC -

Episodic ataxia type 1 Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Episodic ataxia Next generation sequencing panel


Epoxy Carbemazepine Blood Venous / Capillary


ESR Blood Venous/ capillary

EDTA 0.5ml 24h Can be performed along with FBC

H -

Ethosuximide Blood Venous/ capillary

Li Hep 1ml - Store 4°C CC NGH

Ethylmalonic acid Urine Random Plain universal

5 ml 4-6 weeks


CCM

Extended lymphocyte markers Blood Venous/ capillary

EDTA 1.0ml - By special arrangement RHH, Immunology NGH or Immunology Newcastle dependant on clinical situation.

H RHH, NGH or NRVI

Ewings sarcoma and rearrangement of EWSR1 associated with clear cell sarcoma, extraskeletal myxoid chondrosarcoma and desmoplastic small round cell tumour

PETS 2x4m sections on slides

- - - 14 days - SDGS -

Factor V deficiency (F5) Blood Venous EDTA 0.5-5ml 8 weeks - SDGS -

Factor XI Deficiency (Haemophilia C) molecular test


SDGS -

Factor XIII Deficiency molecular test Blood Venous EDTA 0.5-5ml 2-8 weeks

SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Faecal alpha 1 antitripsin Faeces Random faeces

Faecal pot 10g - Freeze immediately CC PRU

Faecal calprotectin Faeces Formed faeces

Faecal pot - - - CC RDGH

Faecal elastase Faeces Formed faeces

Faecal pot - - Not suitable for patients < 2 wks old

CC RHH

Faecal fat Faeces - - - - Fat globule microscopy recommended. Contact Clin Chem duty biochemist bleep 095

- NGH

Faecal Occult Blood Faeces - Faeces pot - - - CC BCH

Familial Adenomatous Polypsis Coli (FAP) (APC sequencing and MLPA)


- SDGS -

Familial Adenomatous Polypsis Coli (FAP) & MUTYH Gene Panel (APC & MUTYH sequencing and MLPA)


- SGDS -

Familial hemiplegic migraine next generation sequencing panel.


Familial hypercholesterolaemia (LDLR sequencing and MLPA ApoB p.(Arg3527Gln) mutation analysis; PCSK9 p.(Asp374Tyr) mutation analysis)


- SDGS -

Familial motor neurone disease / amyotrophic lateral sclerosis with or without frontotemporal dementia (ALS/FTD) C9orf72 gene


- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Familial motor neurone disease / amyotrophic lateral sclerosis (ALS) SOD1 gene


- SDGS -

Familial motor neurone disease / amyotrophic lateral sclerosis (ALS) TARDBP gene


- SDGS -

Familial Porencephaly (COL4A1 & COL4A2) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Familial Porencephaly (COL4A1 & COL4A2) by Next generation Sequencing


- SDGS -

Familial Thoracic Aortic Aneurysms Next Generation Sequencing Panel


- SDGS -

Fanconi anaemia Blood Venous Li Hep 2-3ml 28 days Please inform the laboratory prior to sample dispatch

SDGS -

Fanconi Anaemia (FANCA, FANCC, FANCG) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

FBC (full blood count) Blood Venous / capillary

EDTA 1ml 24 hours

1ml suff for film, ESR, GF test and retics also. See detailed section for tests included

H -

Ferritin Blood Venous / arterial

Li Hep 0.5ml 2-72 hrs - CC

Fibrinogen - - - - - See Coagulation screen

H -

Fibrinogen disorders (FGA, FGB, FGG) Blood Venous EDTA 0.5-5ml 8 weeks - SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Film for blood cell morphology Blood Venous / capillary

EDTA - 24 hours

Performed only if FBC findings or clinical details indicates appropriate

H -

FISH Constitutional Tests – see table below for list of tests

Blood Venous Li Hep 2-3ml Dependent on urgency

- SDGS -

CONSTITUTIONAL FISH TEST In Chromosome Order 1-22,X,Y

Gene Comments

1p36.33 microdeletion syndrome (inc. hypertrichotic osteochondrodysplasia)

CEB108/T7 and D1Z2 Terminal and interstitial deletions detected

2q37.3 Brachydactyly-mental retardation microdeletion syndrome (inc. Albright hereditary osteodystrophy (AHO)-like metacarpal/metatarsal shortening)

D2S447

4p16.3 Wolf-Hirschhorn microdeletion syndrome WHSC1

5p15.3 Isolated Cat Cry microdeletion syndrome (ICS) and 5p15.2 Cri Du Chat microdeletion syndrome (CDC)

FLJ25076 (ICS) and CTNND2 (CDC) respectively

5q35 Sotos microdeletion syndrome NSD1

7q11.23 Williams microdeletion syndrome ELN

7q11.23 microduplication syndrome (inc. speech delay, ADHD)

ELN


Laboratory Handbook



Gene Comments

8q12.1-12.2 CHARGE microdeletion syndrome (inc.ocular coloboma, heart defects of any type, atresia of the choaneae, retardation, genital and ear anomolies)

CHD7

8q23.3-8q24.1 Langer-Giedion microdeletion syndrome (inc. trichorhinophalangeal syndrome type 1 and multiple cartilaginous exostoses)

TRPS1 and EXT1 respectively

9q34.3 Kleefstra microdeletion syndrome (inc. craniofacial features, hypotonia, obesity, microcephaly and speech delay)

D9S325

15q11.2 Prader-Willi microdeletion/ microduplication syndrome

SNRPN For 1st line test see molecular genetic referral

15q11.2 Angelman microdeletion syndrome D15S10/UBE3A For 1st line test see molecular genetic referral

16p13.3 Rubenstein-Taybi microdeletion syndrome (inc. short stature, talon cusps, patellar dislocation, broad thumbs and big toes)

CREBBP

17p13.3 Miller-Dieker microdeletion syndrome LIS1 (PAFAH1B1)

17p11.2 Smith-Magenis microdeletion syndrome RAI1

17p11.2 Potocki-Lupski microduplication syndrome (inc. neonatal hypotonia, sleep apnea, hyperactivity, structural cardiovascular abnormalities)

RAI1

17q11.2 NF1 (Von Recklinghausen) microdeletion syndrome

NF1 (RP1-4C23) Home grown

17q21.31 microdeletion syndrome (inc. neonatal hypotonia, developmental delay and speech delay)

MAPT


Laboratory Handbook



Gene Comments

22q11.2 DiGeorge/VCFS microdeletion or microduplication syndrome

TBX1

22q13.3 Phelan-McDermid microdeletion syndrome (inc. neonatal hypotonia, absent or delayed speech)

N85A3 N85A3 is the control sequence for TBX1

Xp22.3 or Yp11.32 Leri-Weill Dyschondrosteosis inc. short stature and madelung deformity (heterozygous microdeletion syndrome) or Langer Mesomelic Dysplasia inc. severe short stature and skeletal abnormalities (homozygous microdeletion syndrome)

SHOX Located in the PAR1 pseudoautosomal regions of both X and Y chromosomes

Xp22.3 Kallmann microdeletion syndrome (inc. hypogonadotrophic hypogonadism and anosmia)

KAL1

Xp22.3 Steroid Sulphatase Deficiency microdeletion syndrome inc. X-Linked Ichthyosis

STS

Xq13.2 X inactivation centre deletion XIST Critical for the determination of phenotypic severity of abnormal X chromosomes

Yp11 Swyer microdeletion syndrome (XY female) and detection of unbalanced t(X;Y) leading to XX with male phenotype

SRY Sex determining region

XCEN/YCEN/18CEN/13q14/21q22.13-q22.2 Sex chromosome aneuploidy, Edward, Patau and Down syndrome

DXZ1/DYZ3/D18Z1/RB1/D21S342, D21S341,D21S259

Common aneuploidy detection


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

FISH Oncology Tests – see table below for list of tests

Blood/Bone marrow or paraffin embedded tissue

- Universal with 5 – 10mls of transport medium/Li Hep tube

- Dependent on urgency

- SDGS -

ONCOLOGY FISH TEST

A – Z by gene name Gene Comments

AFF1 (MLLT2)/MLL dual fusion 4q21-22/11q23

ALK Breakapart 2p23 All variants (contact lab before referral)

ALK/EML4 Dual Fusion inv(2)(p21p23)

BCL2 Breakapart 18q21 All variants

BCL6 Breakapart 3q26.2 All variants

BCR/ABL1/ASS Dual Fusion t(9;22)(q34;q11) Tricolour –Complex deletion rearrangement pattern monitoring possible

BLADDER PANEL- Single locus probes D3Z1/D7Z1/p16/D17Z1

3CEN/7CEN/9p21/17CEN 3, 7 and 17 aneuploidy detection and 9 short arm deletion detection

CBFB Breakapart 16q22 All variants

CBFB/MYH11 Dual Fusion inv(16)(p13q22) and t(16;16)(p13;q22)

CCND1 Breakapart 11q13 All variants

CCND1/D11Z1 Single locus probes 11q13/11CEN CCND1 amplification detection

CDKN2C(p18)/CKS1B amplification in MM single locus probes

1p32.3/1q21 CDKN2C deletion / CKS1B

CERVICAL PANEL Single locus probes hTERC/MYC/D7Z1

3q26.2/8q24/7CEN

Detection of hTERC and/or MYC gain


Laboratory Handbook


ONCOLOGY FISH TEST A – Z by gene name

Gene Comments

CHD5/1qter single locus probes 1p36 Short arm deletion detection

CLL PANEL Single locus probes MIX 1 - ATM/TP53 MIX 2 – D12Z3/D13S319/13q34

11q22.3/17p13.1 12CEN/13q14.3/13q34

Deletion detection Aneusomy 12 and aneusomy 13 or heter/homozygous long arm deletion detection

D1Z2 Single locus probe 1p36 Short arm deletion detection

D8Z2 Single locus probe 8CEN Aneusomy 8 detection

D12Z3 Single locus probe 12CEN Aneusomy 12 detection

D7S522/D7Z1 Single locus probes 7q31/7CEN Monosomy or long arm deletion detection

D13S25 Single locus probe 13q14 Monosomy or long arm deletion detection



DDIT3 Breakapart 12q13 All variants formerly CHOP

DEK/NUP214 Dual Fusion t(6;9)(p22;q34)

Dermatofibrosarcoma protruberans panel chromosomes COL1A1 and PDGFB – breakapart probes

17q22 and 22q13 Detection of t(17;22)(q22;q13) and amplification in supernumerary ring

DXZ1/DYZ3 Single locus probes XCEN/YCEN Sex mismatched monitoring

EGR1/D5S23,D5S721 5q31/5p15.2 Monosomy or long arm deletion detection

EML4 Breakapart 2p21 All variants

ETV6 Breakapart 12p13 All variants

ETV6/RUNX1 Dual Fusion t(12;21)(p13;q22) Formerly TEL/AML1

EVI1 (D3S1243/hTERC/RH123089) Breakapart 3q26.2 Tricolour All variants

EWSR1 Breakapart 22q12 All variants


Laboratory Handbook



Gene Comments

EWSR1/FLI1 Dual Fusion t(11;22)(q24;q12)

FGFR1/D8Z2 Breakapart and single locus probe 8p11/8CEN All variants and FGFR1 amplification

FOXO1 Breakapart 13q14 All variants Formerly FKHR See also PAX3

FUS Breakapart 16p11 All variants

GLIOMA PANEL Single locus probes Mix 1 – EGFL3,TP73/ANGPTL1,ABL2 Mix 2 - ZNF44,ZK1,MAN2B1/GLTSCR1+2,CRX

1p36/1q25 19p13/19q13

Loss of 1p relative to 1q and loss of 19q relative to 19p

HER2/D17Z1 Single locus probes 17q11.2-q12 HER2 amplification detection

HER2/TOP2A/D17Z1 Single locus probes 17q11.2-q12/ 17q21-22/17CEN

HER2 amplification detection and TOP2A deletion

IGH Breakapart 14q32 All variants

IGH/BCL2 Dual Fusion t(14;18)(q32;q21)

IGH/CCND1,MYEOV Dual Fusion t(11;14)(q13;q32)

IGH/FGFR3 Dual Fusion t(4;14)(p16;q32)

IGH/MAF Dual Fusion t(14;16)(q32;q23)

IGH/MAFB Dual Fusion T(14;20)(q32.33;q11.1-q13.1) MM

IGH/MYC/D8Z2 Dual Fusion t(8;14)(q24;q32) Aneusomy 8 also detected

IGK Breakapart 2p12 All variants

IGL Breakapart 22q11 All variants

MALT Breakapart 18q21 All variants

MDM2/D12Z1 Single locus probes 12q14.3-q15/12CEN MDM2 amplification detection

MELANOMA PANEL Single locus probes D6Z1/RREB1/MYB/CCND1

6CEN/6p25/6q23/11q13

MLL Breakapart 11q23 All variants

MYB Single locus probe 6q23 Long arm deletion detection


Laboratory Handbook



Gene Comments

MYC Breakapart 8q24 All variants

MYC/D8Z2 Single locus probes 8q24/8CEN Detection of gain of 8q24 relative to 8CEN

N-MYC/D2Z1 Single locus probes 2p24/2CEN N-MYC amplification detection

NUP98 breakapart 11p15 AML, ALL, CML-bc

p16(D9S1749-D9S1752)/CEP9 Single locus probes

9p21/9CEN Short arm deletion detection

PAX3 Breakapart 2q35 All variants See also FOXO1

PBX1/TCF3 dual fusion probe t(1;19)(q23;p13.3) ALL

PDGFRA /LNX/ SCFD2 Breakapart 4q12 FIP1L1/CHIC2/PDGFRA rearrangement

Tricolour All variants

PDGFRB Breakapart 5q32 All variants

PIK3CA Single locus probe 3q26.32 PIK3CA amplification detection

PML/RARA Dual Fusion t(15;17)(q22;q21)

PROSTATE PANEL Mix 1 – TMPRSS2/ERG Breakapart Mix 2 - PTEN/CEP10 Single locus probes

21q22 10q23/10CEN

Mix 1 – Tricolour, all variants Mix 2 - Long arm deletion detection

PTEN/CEP10 Single locus probes 10q23/10CEN Long arm deletion detection

RARA Breakapart 17q21 All variants

RB1 13q14 Monosomy or long arm deletion detection

ROS1 Breakapart 6q22 All variants

RUNX1/RUNX1T1 Dual Fusion t(8;21)(q22;q22) Formerly AML1/ETO

SEC63/D6Z1 6q21/6CEN Long arm deletion detection

SS18 Breakapart 18q11.2 All variants Formerly SYT

TCF3 Breakapart 19p13.3 All variants, formerly E2A

TCR a/d Breakapart 14q11.2 All variants

TP53/D17Z1 Single locus probes 17p13.1/17CEN Short arm deletion detection


Laboratory Handbook



Gene Comments

TP53/MPO Single locus probes 17p13.1/17q22 i(17q) detection

Uveal Melanoma Single Locus Probes D3Z1/D8Z2

3 centromere and 8 centromere

Aneuploidy detection

ZNF217 20q13.2 ZNF217 amplification detection

Test Specimen

type Collection


Lab to send to

Referred to

Fish Odour Syndrome Urine - - - - See Trimethylamine & Dimethyglycine

CCM -

Fish Odour Syndrome (Molecular Genetic testing)

- - - - - See Trimethylaminuria

- -

Fk506 (tacrolimus ) Blood Venous / capillary

EDTA whole blood

0.5ml 1 day - CC -

Fluoride number Blood - - - - See pseudocholin’ase

CC -

Folate - - - - - See Haematinic assay

CC -

Follicle stimulating Hormone FSH Blood Venous Li Hep / S. Gel

2ml - - CC RHH

Follicular lymphoma / DLBCL PETS 2x4m sections on slides

- - - 14 days

- SDGS -

Fragile X syndrome Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Free fatty acids Blood - - - - See Intermediary metabolites

CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Free T3, T4 Blood Venous Li Hep 1ml 1-3 days

- CC -

Friedreich Ataxia Blood Venous EDTA 0.5-5ml 2-6 weeks

- SDGS -

Fructose-1,6-bisphosphatase deficiency Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Fumarate hydratase Amniotic Fluid - Plain universal

5ml ASAP Please contact the metabolic lab prior to collection

CCM -

Fumarate hydratase Fibroblasts - Culture medium

1-2 mm 2 months

Refer to Skin Biopsies

CCM -

Fumarate Hydratase Deficiency (FH sequencing and MPLA)



- SDGS -

Galactitol Urine Random Plain universal

5ml 5-14 days

Please contact the duty biochemist

CCM -

Galactokinase Blood Venous Lith Hep Whole blood

1 ml - Send on ICE CC SOUTH

Galactosaemia screen Blood Venous or capillary

Li Hep whole blood

0.5ml 2 days Not EDTA CCM -

Galactosaemia screen Blood Spots Venous or capillary

Guthrie card (Li Hep - whole blood)

Two spots

1 week - CCM -

Galactose-1-phosphate Blood Venous Li Hep whole blood

5ml Send away


CCM -

Galactose-1-phosphate uridyl transferase Blood - - - - See Galactosaemia screen

CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Gamma glutamyl transferase GGT Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Gastrin - - - - - Bleep duty biochemist prior to collection 095

CC SAS centre

GATA2 Blood/Bone Marrow


- SDGS -

Gentamicin Blood Venous / capillary

S. Gel / plain 1ml - - CC -

Gilbert syndrome Blood Venous EDTA 0.5-5ml 6-8 weeks

- SDGS -

Glandular fever screen - - - - - See I.M screen H -

Glanzmann Thrombasthaemia Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Glioma PETS 2x2m

and 2x4m sections on slides

- - - 14 days

- SDGS -

Gliadin antibodies Blood Venous/ capilary

S Gel 2 ml - - CC NGH

Globulin - - - - - See Immunoglobulins CC NGH

Glucagon Blood Venous EDTA 1ml - Send on ice immediately

CC SAS centre

Glucose Blood Venous / capillary

Fluoride/Li Hep

0.5ml 4h Li Hep acceptable only if <60 mins old

CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Glucose (blood gas analyser) Blood Arterial / Venous / Capillary

Siemens Rapidlyte balanced heparin syringe (3ml) /capillary withclosing caps.


≤10min syr. ≤10min cap.

Do not use non- heparinised containers. Keep well mixed right up until analysis. Mix thoroughly by rotation.

POCT (CC)

-

Glucose CSF - Fluoride hep 0.1ml 4h - CC -

Glucose Urine 24 hr Plain bottle 4h 10 ml aliquot CC -

Glucose-6-phosphate dehydrogenase (G6PD)


EDTA 1.0ml Discuss

Screen performed at SCH. Assay performed if screen is abnormal and is referred to Haem RHH

H -

Glucose Transporter 1 (GLUT1) deficiency syndrome (SLC2A1 sequencing and MLPA)


SDGS -

Glutaric acid Amniotic Fluid - Plain universal

10ml 2 weeks

Contact lab prior to amniocentesis

CCM -

Glutaric AciduriaType 1 (GA1) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS

-

Glutaric Aciduria Type 1 Fibroblasts - - - 6-8 weeks

- CCM -

Glutathione peroxidase - - - - - See selenium CC GRI

Glycated haemaglobin - - - - - See HbA1c - -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Glyceric Acid chirality (D or L) Urine Random Plain universal

5ml 4-6 weeks

- CCM -

Glycine Blood Venous Li Hep plasma

0.5ml 1 week - CCM -

Glycine CSF - Plain tube 0.2ml 1 week Must be paired with a plasma sample

CCM -

Glycogen Storage Disease Next Generation Sequencing Panels: Liver, Muscle, Heart, Generalised Panel


- SDGS -

Glycogen Storage Disease Type 0 (GYS2 – liver, GYS1-muscle)


- SDGS -

Glycogen Storage Disease Type 1a (von Gierke disease) (G6PC)


- SDGS -

Glycogen Storage Disease Type 1 non-a (SLC37A4)


- SDGS -

Glycogen Storage Disease Type II (Pompe disease) (GAA)


- SDGS -

Glycogen Storage Disease Type III (AGL) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Glycogen Storage Disease Type IV (Andersen disease) (GBE1)


- SDGS -

Glycogen Storage Disease Type V (McArdle disease) (PYGM)


- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Glycogen Storage Disease Type VI (Hers Disease)(PYGL)


- SDGS -

Glycogen Storage Disease Type VII (Tarui disease)(PFKM)


- SDGS -

Glycogen Storage Disease Type IX (X-linked) (PHKA2-liver, PHKA1-muscle)


- SDGS -

Glycogen Storage Disease Type IX (autosomal) (PHKB, PHKG2)


- SDGS -

Glycogen Storage Disease Type X (PGAM2)


- SDGS -

Glycogen Storage Disorder Enzymes Blood Venous Li Hep whole blood

5ml - Please contact the duty biochemist prior to collection

CCM -

Glycosaminoglycans Urine Random / 24 hrs

Plain universal

10ml 4-6 weeks

Do not use Z10 containers for Clinical Chemistry Urine samples.

CCM -

Gonadotrophins - - - - - See FSH and LH CC -

Group Blood - - - - See Blood group & crossmatch

H -

Group and save Blood - - - - See Blood group & crossmatch

H -

Growth hormone Blood Venous Li Hep plasma

2ml - - CC RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Growth hormone antibodies Blood Venous S. Gel / Li Hep

5ml - - CC NGH

Gut hormone profile Blood Venous EDTA 10ml 3 weeks

Transport on ice CC SAS centre

Haemochromatosis Blood Venous EDTA 0.5-5ml 4 weeks

- SDGS -

Haemoglobin Blood - - - - See FBC H -

Haematinic Assay Blood Venous / capillary

S. Gel 1ml 5 days - CC -

Haemoglobin (total, tHb; g/L) - blood gas analyser




POCT (CC)

-

Haemoglobin (total, tHb; g/L) - blood gas analyser



POCT (CC)

-

Haemoglobin studies Blood Venous / capillary

EDTA 2ml 10 days

Hb HPLC and HbA2 fraction identification , F, S quantitation

H -

Haemolysis tests Blood Venous EDTA Discuss 10 days

Discuss with consultant haematologist to determine choice of tests.

H -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Haemophilia A/Factor VIII deficiency molecular test


SDGS -

Haemophilia A/Factor VIII deficiency - Next Generation Sequencing Panel

Blood venous EDTA 0.5-5ml 8 weeks

- SDGS -

Haemophilia B/Factor IX deficiency molecular test


SDGS -

Haemophilia C/ Factor XI Deficiency molecular test


SDGS -

Haemosiderin Bone marrow Bone marrow aspirate

Discuss with lab

Discuss 3 days Discuss with consultant haematologist.

H -

Haemosiderin Urine Urine Plain 10ml 3 days Discuss with consultant haematologist

H -

Haptoglobin Blood Venous Plain / S. Gel 2ml 10 days

Discuss with consultant haematologist

H RHH

HbA1C Blood Venous / capillary

EDTA 0.5ml 4h - CC -

HDL cholesterol Blood Venous S. Gel 1ml 4h - CC -

Helicobacter pylori faecal antigen test Faeces

Heparin control Blood Venous Citrate 1.0ml Discuss

See also anti-Xa/APTT ration. Contact Haem Consultant.

H -

Hepatitis B PCR Blood Venous S. Gel/EDTA 2ml - Label as “high risk” CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Hepatitis C PCR Blood Venous S. Gel/EDTA 2 x 2ml - Label as “high risk” CC NGH

Hepatitis B or C serology Blood Venous S. Gel 2ml - Ask for Hep B s Ag, CoreAb and SAb.

Label as “high risk”

CC NGH

Her2 Paraffin embedded tissue biopsy

- - - 1-2 weeks

Contact lab prior to referral

SDGS -

Hereditary Ataxia and Migraine Next Generation Sequencing Panel


- SDGS -

Hereditary Breast and Ovarian Cancer (BRCA1 & BRCA2)


full screen

2 weeks predicti

ve

Performed by Next Generation Sequencing & MLPA

SDGS -

Hereditary Breast and Ovarian Cancer Extended Gene Panel


- SDGS -

Hereditary Leiomyomatosis with renal cell carcinoma (HLRCC/MCUL) (FH sequencing and MLPA)


- SDGS -

Hereditary Non Polyposis Colorectal Cancer (HNPCC)


- SDGS -

Hereditary Non Polyposis Colorectal Cancer (HNPCC) Gene Panel (including MLPA)


- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Hereditary Non Polyposis Colorectal Cancer (HNPCC) Tumour Microsatellite Instability Analysis (MSI)

Blood and PETS 8X10um sections in universal


- SDGS -

Hereditary Spastic Paraparesis (dominant, pure) SPAST gene


- SDGS -

Hereditary Spastic Paraparesis (dominant, pure) ATL1 gene


- SDGS -

Hereditary Spastic Paraparesis (dominant, pure) REEP1 gene


- SDGS -

Hereditary Spastic Paraparesis (HSP) Next Generation Sequencing Panel


- SDGS -

Hereditary spherocytosis – See Haemolysis tests

- - - - - - - -

Hexanoylglycine Amniotic Fluid - Plain universal

5ml ASAP Prenatal diagnosis of MCADD. Metabolic lab MUST be contacted

CCM -

Hexanoylglycine Urine Random Plain universal

2ml 4weeks Do not use Z10 containers for Clinical Chemistry Urine samples.

CCM -

5 HIAA Urine 24 hr 10ml 10% H2SO4

10ml - 5 hydroyxindole acetic acid

CC NGH

High density lipoprotein (HDL) - - - - - See HDL cholesterol CC -

High Sensitivity Troponin T Blood Venous /capillary

S. Gel 0.5ml - - CC RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Histamine - - - - - Contact Immunology ext 15552

CC NGH

Histopathology acetylcholinesterase Rectal biopsy

Unfixed rectal biopsy

Keep Moist See Histo section for further details

See Histo section for further details

- See Histo section

By prior arrangement, must include phone number for report, must indicate urgency, for same day result the sample must be received before 1.30pm

HP -

Histopathology fixed samples Formalin fixed - See Histo section for further details

- See Histo section

Use formalin safety specimen bag

HP -

Histopathology inter-operative frozen section

Unfixed Keep Moist See Histo section for further details


- See Histo section

By prior arrangement, must include phone number for report

HP -

Histopathology liver biopsy Unfixed Keep Moist if small sample. See Histo section for further details


- See Histo section

Indicate if dry copper estimation is required

HP -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Histopathology Lymph node or tumour Unfixed Keep Moist if small sample. See Histo section for further details


- See Histo section

By prior arrangement HP -

Histopathology needle muscle biopsy Unfixed Keep Moist. See Histo section for further details


- See Histo section


Histopathology needle or trucut ? tumour Unfixed needle biopsy

In Hams F10, from Histopath lab

See Histopath section for further details

- See Histo section


Histopathology open muscle biopsy Unfixed Keep Moist. See Histo section for further details

See Histopath section for further details

- See Histo section



Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

HIV DNA Blood Venous EDTA 2ml - Test used to monitor infants born to infected mothers. Plasma must be separated within 6 hrs. Label as “high risk”

CC NGH

HIV Viral load (RNA) Blood Venous EDTA 2ml - Test used to monitor infected patients. Plasma must be separated within 6 hrs. Label as “high risk”

CC NGH

HLA / tissue typing Blood Venous EDTA 2.5ml. If leuco-penic then 5ml

10 days

Dedicated form required - obtain from blood bank lab

H NHSBT

HLA antibody/platelet antibody Blood Venous EDTA + plain 5ml EDTA + 2ml plain

10 days

Dedicated form required - obtain from blood bank lab. Discuss with consultant haematologist

H NHSBT

HMMA Urine - - - - See VMA CCM -

Homocysteine Blood Venous fasting

Li Hep or EDTA

2ml 2 weeks

Must be separated within 30 mins

CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Homocysteine (free) Urine Random / 24 hrs

Plain universal

5ml 7 - 10 days

Please note Plasma is preferred sample for total homocysteine

CCM -

Homovanillic acid Urine - - - - See HVA CCM -

Human chorionic gonadotrophin Blood Venous S. Gel/ Li Hep

3 ml - S. Gel preferred CC RHH

Huntington disease Blood Venous EDTA 0.5-5ml 2 weeks

- SDGS -

HVA Urine Random / 24 hrs

24 hr collected into 10 ml HCL

10ml 1 week - CCM -

Hydrogen ion concentration (H+)

– blood gas analyser, see also pH Blood Arterial /

Venous Siemens Rapidlyte balanced heparin syringe (3ml)

0.8mL ≤10min Do not use non- heparinised Plastipaks. Don’t let sediment. Mix thoroughly by rotation

POCT (CC)

-

Hydrogen ion concentration (H+)

– blood gas analyser, see also pH Blood Capillary Heparinised

capillary 0.10mL ≤10min Add capillary closing

caps. Mix thoroughly by rotation.

POCT (CC)

-

3-Hydroxy Butyrate Blood - - - - See Intermediary metabolites

CCM -

2-Hydroxy Glutaric Acid Chirality (D or L) Urine Random Plain universal

5ml 4 weeks

- CCM -

17 α Hydroxyprogesterone Blood Venous Li Hep plasma/S Gel

1ml - - CC RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

1,25 Hydroxyvitamin D Blood Venous S. Gel 3ml 3 weeks

Protect from light CC -

25 Hydroxyvitamin D Blood Venous S. Gel serum 3ml 3 weeks

Protect from light CC -

Hypochromic red cells Blood Venous / capillary

EDTA Within FBC

1 day - H -

Hypophosphatasia (ALPL) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

IgG subclasses Blood Venous S. Gel 2ml - Responses to vaccinations are a more useful initial test of immune fraction than IgG subclasses.

CC NGH

IGF-1 Blood Venous S. Gel 1ml - - CC RHH

IGF-BP3 Blood Venous S. Gel 1ml - - CC SAS centre, Guildford

Immunoglobulins (IgG, IgA, IgM, IgE) Blood Venous S. Gel 1ml - - CC NGH

Infectious mononucleosis (I.M.) screen Blood Venous / capillary

EDTA 0.5ml 1 day Can perform along with FBC with 1ml total

H -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

INR Blood Venous / capillary

Citrate 1ml 1day See coagulation screen. Restrictions apply If capillary. Dedicated tube for capillary collection obtained from Haematology

H -

Inhibin Blood Venous/ capillary


Insulin Blood Venous Li Hep plasma

5ml - Additional 2ml fluoride for intermediate metabolites

CC RHH

Insulin antibodies Blood Venous S. Gel 2ml - - CC NGH

Interferon CSF - Sterile universal

- - Freeze within 2hrs of collection. Please contact the Duty Biochemist

CC France

Intermediary Metabolites Blood Venous or capillary

Fluoride plasma

2ml 1-5 days

Includes Glucose, Lactate, 3-Hydroxy Butyrate and Free fatty acids

CCM -

Intracellular Magnesium Blood Venous Lith hep Whole blood

2ml 0.5ml

- - CC RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Iodine Urine Random Universal - - - CC SGH

Iron Blood Venous/ capillary

Li Hep plasma

0.5ml 4h Suspected overdose measure at 4h

CC -

Islet cell antibodies Blood Venous S. Gel 2ml - - CC NGH

Isoelectric focusing of Transferrin Blood Venous/ capillary

S Gel 1ml - - CC NEURO

Isohaemagglutinins (anti A, anti B, IgM) Blood Venous S. Gel or EDTA

1ml 24h Ask for quantitative titres. Needs blood bank form filled appropriately

H -

JAK2 (V617F mutation) Blood/Bone marrow


- SDGS -

JAK2 Exon 12 mutation screen (polycythaemia rubra vera/PRV)

Blood/Bone marrow


- SDGS -

Kallmann syndrome Blood Venous Li Hep 2-3ml 28 days

- SDGS -

Karyotype - - - - - See Chromosome SDGS -

KIT-D816V Blood/Bone marrow


- SDGS -

KRAS ( v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog) for CRC and NSCLC and other

Paraffin embedded tissue biopsy

Biopsy - - 1-2 weeks

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Lactate Blood Venous or capillary

Fluoride plasma

0.5ml 4h Fasting if not part of Hypoglycaemia screen

CC -

Lactate (blood gas analyser) Blood Arterial / Venous / Capillary

Siemens Rapidlyte balanced heparin syringe (3ml) or capillary with closing caps.



Do not use non- heparinised containers. Keep well mixed right up until analysis. Mix thoroughly by rotation.

POCT (CC)

-

Lactate CSF - Fluoride tube 0.2ml 4 days - CCM -

Lactate dehydrogenase LDH Blood Venous / capillary

Li Hep plasma

0.5ml 4h - CC -

Lactose tolerance test Blood - - - - Bleep duty biochemist 095

CC -

Lamotrigine Blood Venous/ capillary

Lith Hep/ S Gel

1ml - -

CC NGH

Latex fixation test Blood Venous S Gel 3 ml - -

CC NGH

Laxative screen Urine Random Plain universal

10ml - - CC NGH

Lead Blood Venous Li Hep / EDTA whole blood

1ml - - CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Leber Hereditary Optic Neuropathy (LHON) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Leucine Proline-Enriched Proteoglycan (LEPRE1) (autosomal recessive OI)


- SDGS -

Leucocyte enzyme - - - - - See white cell enzyme

CC -

Leukaemia cytochemistry - - - - - See bone marrow H -

Levetiracetam (Keppra) Blood Venous/ capillary

Li Hep/ S Gel

1ml - - CC CCFE

Li Fraumeni (TP53 gene sequencing and MLPA)


- SDGS -

Lipase Blood Venous/ Capillary

Lith Hep/ S Gel

0.5ml 1-2 weeks

- CC

Lipids Blood Venous / capillary

Li Hep / S. Gel

0.5ml 4h See cholesterol, HDL and triglyceride

CC -

Lipoprotein (a) Lp (a) Blood Venous / capillary

Li Hep 1m - - CC GEOR

Lithium Blood Venous S Gel 3ml - - CC RHH

Liver function tests LFT Blood Venous / capillary

Li Hep 0.5ml 4h See bilirubin, ALP, ALT, GGT, total protein albumin

CC -

LLMI BAL Bronchial aspirate

Sterile universal

>2mls 5 days Macrophage lipid content analysis

HP -

Long Chain 3- Hydroxyacyl-CoA -Dehydrogenase Deficiency (LCHAD)

Blood or Guthrie spots


Common mutation only

SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Long Chain Fatty Acids Blood - - - - See Very Long Chain Fatty Acids

CCM -

Lupus inhibitor / anticoagulant Blood Venous Citrate 1ml 1 Week See coagulation studies

H -

Luteinising hormone LH Blood Venous Li Hep plasma / S. Gel

2ml - - CC RHH

Lymphocyte subsets Blood Venous EDTA 1ml 5 days. Not for first line investigation. Requires approval from Immunology consultant before requesting assay.

H -

Lysosomal Enzymes Blood Venous EDTA whole blood

5ml - Please contact the duty biochemist

CCM MCH

Macroglobulins Blood Venous S Gel 4ml - - CC NGH

Magnesium Blood Venous / capillary

Li Hep plasma

0.5ml 4h Avoid haemolysis CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Malarial parasites (blood film/ Malaria Rapyd Test (MRT))


EDTA 1ml Discuss

Can perform along with FBC. Three negative diagnostic samples over a period of 24-48 hours are necessary to exclude malaria. These repeat tests should include blood films and MRT. It is recommended these further samples are taken 24 hours and 48 hours post initial presentation. Please include details of recent travel history on the request form. Please note that the MRT method is not validated for the detection of P knowlesi.

H LSTM

Malt lymphoma PETS 2x2m


- - - 14 days

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Manganese Blood Capillary only

EDTA 0.5ml - Bleep duty biochemist prior to collection 095


Mannan binding protein Blood Venous S. Gel 1ml - - CC NGH

Mantle cell lymphoma PETS 2x2m


- - - 14 days

- SDGS -

Medium Chain Acyl CoA-dehydrogenase Deficiency

Blood or Guthrie spots


- SDGS -

Meningococcal PCR Blood Venous EDTA 0.5ml - Take as early as possible after presentation

CC NGH

Mercury Blood Urine

Venous/ Capillary

EDTA 1ml - Early morning Urine 10ml min

CC SAS centre

Metanephrine (Metadrenaline) Blood Venous EDTA 3ml 3-4 weeks

Send on ice immediately.

CC SRH

Methaemoglobin (MetHb; reported as %Hb) – blood gas analyser




POCT (CC)

-

Methaemoglobin (MetHb; reported as %Hb) – blood gas analyser



POCT (CC)

-


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Methotrexate Blood Venous/ capillary

Li Hep plasma

0.75ml <12hrs Send first sample 48hr post dose

CC -

Methylmalonic Acid Amniotic Fluid - Plain universal

5ml Discuss

Prenatal diagnosis of Methylmalonic Acidaemia. Metabolic lab MUST be contacted

CCM -

Methylmalonic Acid Urine Random Plain universal

5ml 2 weeks


CCM -

Microarray Skin Biopsy Sterile tissue

Culture medium pots

1-2mm cubed

28 days

- SDGS -

Microarray Fetal Loss Placental biopsy at cord insertion site, fetal membrane, villi, cord biopsy & skin biopsy

- Sterile tissue culture medium pot

<1cm cubed

28 days

- SDGS -

Microsatellite Instability Analysis (MSI) Blood and Paraffin embedded tissue biopsy


- SDGS -

Microarray (see CGH) - - - - - - - -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Mitochondrial Disorder, Leber Hereditary Optic Neuropathy, MELAS, MERRF, NARP.


Please contact lab to discuss sample type

SDGS -

Mitochondrial DNA Blood - - - - See SDGS section CC -

Monospot - - - - - See I.M screen H -

MPL Exon 10 mutation screen (?PMF and ?ET)

Blood/Bone Marrow


- SDGS -

MTHFR (Methylene Tetra Hydra Folate Reductase deficiency)


- SDGS -

Mucopolysaccharides Urine Random Plain universal

5ml 4 weeks


CCM -

Multiple Endocrine Neoplasia Type 1 (MEN1 gene sequencing & MLPA)


- SDGS -

Multiple Endocrine Neoplasia Type 2 (MEN2) and Hirschsprung disease (RET gene)


- SDGS -

Muscle Biopsy - - - - - Metabolic lab MUST be contacted to arrange ext 17445

CCM -

Muscle Biopsy for Histopathology Fresh - See Histopath section for further details

- See Histo section

Histopath lab MUST be contacted to arrange

HP -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Muscle enzymes Blood Venous or capillary

Li Hep plasma

0.5ml 4h See CK, LDH, AST CC -

MutYH-associated polyposis (MAP) (MUTYH gene) UK common mutation screen/carrier testing


- SDGS -

Mycophenolate Blood Venous/ capillary

Li hep EDTA

0.5ml - Separate quickly CC RBH

Myelin basic Protein CSF - - 0.2ml - Freeze immediately CC CHURCH

Myelodysplastic syndromes (MDS) Bone marrow - Universal with 5-10ml of transport medium

0.25-1ml 28 days

- SDGS -

Myeloperoxidase (cytochemical qualitative) Blood Venous/capillary

EDTA 0.5ml Discuss

Can perform along with FBC depending upon clinical setting

H -

Myeloproliferative disease (MPD) Bone marrow - Universal with 5-10ml of transport medium

0.25-1ml 28 days

- SDGS -

Myeloproliferative disorder/essential thrombocythaemia(ET)/polycythaemia rurbra vera (PRV)/ myelofibrosis (MF) - JAK2

Blood / Bone marrow

- EDTA 0.5-5ml 2 weeks

- SDGS -

MYH9-related disorders (GATA2, SBDS, RUNX1)


- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

MutYH Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Myoadenylate Deaminase deficiency (AMPD1)


- SDGS -

Myoglobin Blood Venous S. Gel 2ml - - CC NGH

Myoglobin Urine Random Plain universal

10ml - Preferred CC NGH

N acetylaminoglucoaminidase Urine Fresh Random

Universal 2ml - Store frozen CC CHILD

Neonatal Alloimmune Thrombocytopenia (NAIT)


- SDGS -

Neuroblastoma PETS 2x2m


- - - 14 days

- SDGS -

Neuroblastoma Biopsy & resection Fresh - See Histo section for further details

- See Histo section

- HP -

Neurone Specific Enolase Blood Venous S. Gel 2-3ml - - CC NGH

Neurotransmitters CSF - Special requirements

- - Metabolic lab MUST be contacted to arrange

CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Neutrophil adhesion molecules Blood Venous EDTA 1ml - By arrangement with Imm lab Newcastle only

H NRVI

Noradrenaline Blood Venous Li Hep plasma

2ml 2-4 weeks

Send on ice immediately

CC RBH

Noradrenaline Urine 24 hr Bottle +10ml H2SO4

20ml - - CC NGH

Normetanephrine (Nor-adrenaline) Blood Venous EDTA 1ml 3-4 weeks

Send on ice immediately.

CC SRH

Oestradiol Blood Venous Li Hep plasma

2ml - -

CC RHH

Oestrogen Urine 24hr Plain bottle / few drops of chloroform

10 ml

- - CC MCH/JA

MES

Oligosaccharides Urine - Random 10ml - - CC WILL

Oligoclonal bands CSF Blood

- S Gel

0.5ml 5ml - -

CC NGH

Organic Acids Urine Random / 24 hrs

Plain universal

10ml 2 weeks

Not Boric Acid. Do not use Z10 containers for Clinical Chemistry Urine samples.

CCM -

Orosomucoid - - - - - See Acid Glycoprotein

CC NGH

Orotic Acid Urine Random / 24 hrs

Plain universal

10ml 2 weeks

- CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Osmolality Blood Venous/ capillary

Li Hep plasma

0.5ml 4h - CC -

Osmolality Urine Random urine

Plain universal

1ml 4h - CC -

Osteocalcin Blood Venous EDTA 5ml - Bleep duty biochemist prior to collection 095

CC RHH

Osteogenesis Imperfecta Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Osteogenesis Imperfecta – autosomal dominant Next generation Sequencing Panel


- SDGS -

Osteogenesis Imperfecta – autosomal recessive (CRTAP, LEPRE1, PPIB)


- SDGS -

Osteogenesis Imperfecta – autosomal recessive Next generation Sequencing Panel


- SDGS -

Osteogenesis Imperfecta Type V (IFITM5) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Osteoporosis and osteoporosis pseudoglioma syndrome (LRP5)


- SDGS -

Oxalate Urine Random urine

Bottle+10ml HCL

25ml - CARE -store at room temp

CC BCH

Oxcarbazepine and 10 hydroxycarbazepine Blood Venous Li hep/ S Gel

0.2ml min

- - CC CCFE

5-Oxoproline Amniotic Fluid - - - - See Pyroglutamic acid

CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Oxygen saturation (sO2 ; reported as %) – blood gas analyser




POCT (CC)

-

Oxygen saturation (sO2 ; reported as %) – blood gas analyser



POCT (CC)

-

Oxyhaemoglobin (O2Hb ; reported as %Hb) – blood gas analyser




POCT (CC)

-

Oxyhaemoglobin (O2Hb ; reported as %Hb) – blood gas analyser



POCT (CC)

-

Pancreatic polypeptide Blood Venous EDTA 1ml - ON ICE SEP WITHIN 15MINS

CC SAS centre

Paracetamol Blood Venous / capillary

Li Hep plasma

0.5ml 4h Overdose; sample taken not less than 4h post OD. If IV overdose is suspected contact the duty biochemist (bleep 095)

CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Paraquat Blood Venous Li Hep plasma

10ml - Contact Clin Chem RHH before collection

CC NGH

Parathyroid hormone PTH Blood Venous EDTA 1ml - Paired 0.5ml Li hep sample for bone profile. Analysed Tue and Thurs, urgent requests only at other times.

CC -

Parkinsonism next generation sequencing panel (Please see Dystonia and Parkinsonism next generation sequencing panel)

- - - - - - SDGS -

pCO2 / pO2 / pH Blood gas analyser




POCT (CC)

-

pCO2 / pO2 / pH Blood gas analyser



POCT (CC)

-

Peroxisomal Biogenesis Disorders (PEX1, PEX6, PEX10, PEX12, PEX26)


- SDGS -

pH Blood - - - - See pCO2 POCT (CC)

-

pH Urine Random Plain universal

10ml 1 day - CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

PHA response (or other mitogen responses e.g. candida, tetanus, PPD)

- - - - - Contact G Wild ext 15394

CC NGH

Phenobarbitone (Phenobarbital) Blood Venous / capillary

Li Hep plasma

0.5ml - - CC RHH

Phenylalanine Blood Venous or capillary

Li Hep plasma (serum OK)

0.5ml 1 week - CCM -

Phenylalanine Blood Spots Venous or capillary

Guthrie Card (Li Hep - whole blood)

Two spots

1 week - CCM -

Phenytoin Blood Venous / capillary

Li Hep plasma

0.5 ml - - CC RHH

Phosphate Blood Venous / capillary

Li Hep plasma

0.5ml 4h Avoid haemolysis CC -

Phosphate Urine 24hr / random

Plain bottle/ universal

10ml 4h - CC -

Phosphate excretion indices Blood+urine - - - - PEI,TRP,TmP/GFR CC -

Phosphoethanolamine Urine Random Plain universal

10ml 2 weeks

- CCM -

Phosphoglycerate Mutase (muscle, deficiency of)


- SDGS -

Phytanate Blood - - - - See Very Long Chain Fatty Acids

CCM -

Phytosterols Blood Venous Li Hep plasma (serum OK)

1ml 4 weeks

- CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

PIK3CA (Phosphatidylinositol 3 – kinase, catalytic, alpha polypeptide)

PETS 8x10μ sections in universal

- - - 1-2 weeks

- SDGS -

Pipecolic Acid Blood Venous Li Hep plasma

1ml 4 weeks

- CCM -

Pipecolic Acid CSF - Plain tube 0.5ml 4 weeks

- CCM -

Pipecolic Acid Urine Random Plain universal

5ml 4 weeks

- CCM -

PLAP Placental ALP Blood CSF

- - - - - CC NGH

Plasmalogens Blood Venous EDTA 2ml 4 weeks

Washed packed red cells

CCM -

Platelet antibody - - - - - See HLA H -

Platelet count - - - - - See FBC H -

Platelet function - - - - - See coagulation studies. Discuss with consultant haematologist

H -

Platelet specific typing Blood Venous EDTA 2.5ml. If thromb-ocyto-penic - 5ml

14 days

Dedicated form required - obtain from blood bank lab. Discuss with consultant haematologist

H NHSBT


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

PNP See Adenosine Deaminase (ADA)

pO2 Blood - - - - See pCO2 POCT (CC)

-

Polycystic Kidney Disease (autosomal dominant) PKD1 & PKD2 Full-gene sequencing and MLPA


- SDGS -

Polycystic Liver Disease (autosomal dominant) PRKCSH & SEC63 gene sequencing

Blood Venous EDTA 1-5ml 2-8 weeks

- SDGS -

Porphobilinogen screen Urine 24hr/ random

Plain bottle/universal

- - Protect from light CC RHH

Porphyrin screen Urine Random Plain universal

10ml - Protect from light Contact Duty Biochemist. EDTA blood and faeces samples may also be appropriate depending on the symptoms

CC RHH

Potassium Blood Venous / capillary

Li Hep plasma

0.5ml 4h Avoid haemolysis. Use venous blood to check result

CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Potassium – blood gas analyser Blood Arterial / Venous / Capillary

Siemens Rapidlyte balanced heparin syringe (3ml) or capillary with closing caps.




POCT (CC)

-

Potassium Urine 24hr / random


10ml 4h - CC -

PPIB (autosomal recessive OI) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Prednisolone Blood Venous S Gel 1 ml - Contact lab before sending sample 2-3 hrs POST dose

CC RBH

Pregnanetriol Urine 24hr Plain bottle 10ml - Serum/plasma hydroxyprogest’one preferred for management of 21 hydroxylase deficiency

CC RHH

Pristanate Blood - - - - See Very Long chain Fatty Acids

CCM -

Prolactin Blood Venous Li Hep plasma

2ml - - CC RHH

Protein CSF - Plain tube 0.5ml 4h - CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Protein Urine 24hr/ random

Plain bottle / universal

2ml 4h - CC -

Protein , Total Blood Venous/ capillary

Li Hep plasma

0.5ml 4h - CC -

Protein /creatinine ratio Urine 24hr/ random

Plain bottle / universal

2ml 4h - CC -

Protein C and S - - - - - See coagulation studies. Discuss with consultant haematologist

H -

Protein C Deficiency Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Protein S Deficiency Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Protein selectivity Blood Venous S. Gel 4ml - - CC NGH

Protein selectivity Urine 4hr urine Plain universal

- - CC NGH

Prothrombin (3' non 20210G>A prothrombin variants)


- SDGS -

Protoporphyrin (erythrocyte) - - - - - See ZPP H -

Pseudoxanthoma Elasticum Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Pseudocholinesterase (scholine sensitivity) - - - - - See Cholinesterase - -

Purines and Pyrimidines Urine Random / 24 hrs

Plain universal

10ml Send away


CCM GUY


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Pyroglutamic acid Amniotic Fluid - Plain universal

10ml 2 weeks

Contact the lab prior to amniocentesis

CCM -

Pyruvate Blood Venous - - Contact the lab for special tubes ext 17445

CC NRVI

Pyruvate CSF - - - Contact the lab for special tubes ext 17445

CC NRVI

Pyruvate carboxylase Fibroblasts - Culture medium

1-2mm 2 months

Refer to Skin Biopsies

CCM -

Quantiferon (Gamma interferon for TB) Blood Venous/ capillary

Li Hep plasma

3 ml total - Contact Microbiologist (SCH) for special tubes ext 17579/53158

CC NGH

Quinine Blood Venous S Gel 5ml - - CC NGH

Quantitative BCR-ABL (MRD) Blood/Bone marrow

- EDTA 0.5-5ml 2 weeks


SDGS -

RAST (radio allergo-sorbent test for specific IgE)

Blood Venous S. Gel 5ml - - CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Rectal biopsy for acetylcholinesterase Unfixed rectal biopsy

Moist See Histo section for further details

- See Histo section

By prior arrangement, must include phone number for report, must indicate urgency, for same day result the sample must be received before 1.30pm

HP -

Reducing Substances Faeces Random Plain universal

- 4 days Fresh sample CCM -

Reducing Substances Urine Random Plain universal

5ml 4 days Fresh sample CCM -

Renin, and Aldosterone Blood Venous Li Hep 2ml - Bleep duty biochemist 095 prior to collection

CC SAS centre, Leeds

Reticulin antibodies Blood Venous S Gel 4ml - - CC NGH

Reticulocyte count (retics) Blood Venous / capillary

- 0.5ml 1 day Can perform along with FBC

H -

Retinoblastoma Blood Venous Li Hep 2-3ml 28 days

- SDGS -

Retinol, retinoids - - - - - See vitamin A CC RDGH

Rheumatoid factor Blood Venous S. Gel 2ml - - CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

RSV (BinaxNOW card) Nasal Pharyngeal Aspirate (NPA)

NPA Plain Universal

1ml 15-20 mins

Store at room temperature for up to 4 hours in designated transport box or fir up to 24 hours at 2-8°C

Lab staff will collect samples at dedicated times

-

RSV (Rapid Test/PCR) Nasal Pharyngeal Aspirate (NPA

NPA Plain universal

1ml 1 week Store at room temperature for up to 4 hours in designated transport box or fir up to 24 hours at 2-8°C

Lab staff will collect samples at dedicated times

NGH

RUNX1 Blood/Bone Marrow


- SDGS -

Salicylate Blood Venous / capillary

Li Hep plasma

0.75ml 4h 2hrs post dose therapeutic range

CC -

SBDS Blood/Bone Marrow


- SDGS -

Selenium Blood Venous Li Hep plasma or serum (no gel)

3ml - CC NGH

Serotonin Blood Venous EDTA +5mg Ascorbic acid

2ml - Frozen within 10 mins

CC NAT

Serotonin Tumour Marker Blood Venous EDTA +5mg Ascorbic acid

1ml - Frozen within 10 mins

CC JAMES

Serotype Specific Pneumococcus Serology Blood Venous S. Gel 1ml - By arrangement with Immunology lab only

CC NGH

Sex Hormone Binding Globule Blood Venous Li Hep plasma

2ml - - CC RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

SGOT (Aspartate aminotransferase) Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

SGPT (Alanine aminotransferase) Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Sickle cell disease Blood Venous EDTA 0.5-5ml 2 weeks

- SDGS -

Sickle cell disease (newborn screening – transfused babies)

Dried blood spot

Capillary - - 2 weeks

Referrals via Newborn screening only

SDGS -

Sickle Hb screen Blood Venous /capillary

EDTA 1ml 1 day Can perform along with FBC 1 ml total and confirmed by HPLC

H -

Silver Urine Blood

- Random urine or whole blood

Few ml

- - CC SAS

centre, Guildford

Sirolimus Blood Venous/ capillary

EDTA Whole blood

0.2ml - -

CC UHSM

Sitosterols Blood - - - - See phytosterols CCM -

Skin Biopsy – tissue culture Skin - - - - Refer to Skin Biopsies under Clinical Chemistry

CCM -

Skin – Immunology Fresh - - - - See Histo section for further details. Contact Immunology NGH – ext 15552.

Send direct to Imm NGH

-

Sodium Blood Venous/ capillary

Li Hep plasma

0.5ml 4h Also blood gas analyser

CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Sodium – blood gas analyser Blood Arterial / Venous / Capillary

Siemens Rapidlyte balanced heparin syringe (3ml) or capillary with closing caps,




POCT (CC)

-

Sodium Urine 24hr random


10ml 4h - CC -

Sorbitol Urine - - - - See Galactitol CCM -

Specific gravity Urine Random Plain universal

1ml 4h Request osmolality CC -

Spinal Muscular Atrophy, 5q linked Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Spinobulbar Muscular Atrophy (Kennedy disease X linked)


- SDGS -

Spinocerebellar Ataxia types 1-3, 6, 7, 12 and 17


- SDGS -

Steroid profile 24 hr Urine 24hr - - - Bleep duty biochemist 095

CC -

Sterols Blood Venous Li Hep plasma

1ml 3 weeks

- CCM -

Stones - - - - - See calculi CC -

Stickler syndrome sequencing panel Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Sugar Chromatography Urine Random Plain universal

10ml Send away


CCM -

Sulphocysteine (this replaces the urine sulphite test)

Urine Random Plain universal

5ml 3 weeks

For the diagnosis of sulphite oxidase or molybdenum cofactor deficiency. If strongly suspected contact the lab for urgent analysis.

CCM -

Sweat test (chloride) Sweat - - - - Arrange with lab CC -

SYNGAP-1 – associated intellectual diasability

Blood - EDTA 2-8 weeks

- SDGS -

Synovial sarcoma PETS 2x4m sections on slides

- - - 14 days

- SDGS -

Tacrolimus (FK506) - - - - - See FK506 CC -

Testosterone Blood Venous Li Hep plasma

2ml - - CC RHH

Thalium Blood Venous EDTA 10ml - - CC SAS centre

Thalium Urine Random Sterile universal

30ml - - CC SAS centre

Theophylline Blood Venous / capillary

Li Hep plasma

0.5ml - - CC RHH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Thiopentone Blood Venous/ capillary

EDTA 1ml - Duty biochemist must be contacted prior to sample collection

CC LLAN

Thiopurine methyltransferase TPMT Blood Venous EDTA whole blood

2-5ml - -

CC BCITYH

TPMT metabolites (6-TGN + 6-MMPN) Blood Venous EDTA whole blood

2-5ml - -

CC BCITYH

Thrombophilia tests - - - - - See coagulation studies. Discuss with consultant haematologist

H RHH

Thyroid antibodies Blood Venous S. Gel 2ml - -

CC NGH

Thyroid binding globulin TBG Blood Venous S. Gel 2ml - - CC NGH

Thyroid function tests TFT Blood Venous Li Hep plasma

2ml 1-3 days

Includes TSH and fT4

CC -

Thyroid stimulating hormone TSH Blood Venous Li Hep plasma

1ml 1-3 days

- CC -

Thyroid stimulating hormone TSH Dried blood spot

Dried blood spot

Guthrie card - 1-5 days

Not offered as a separate test except for TSH monitoring and for needle-phobic patients by arrangement.

CC

Tiagabine Blood Venous S Gel 2ml - - CC CCFE


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Tissue transglutamainse Blood Venous S. Gel 2ml - - CC NGH

Tissue type - - - - - See HLA typing H -

Tobramycin Blood Venous/ capillary

S. Gel 1ml - - CC -

Topiramate Blood Venous / Capillary

Li hep/ S Gel

1ml - - CC CCFE

Total thyroxine T4 Blood Venous Li Hep plasma

1ml - - CC RHH

Toxicology screen Blood Venous Li Hep plasma

5ml - - CC NGH

Toxicology screen Urine Random Plain universal

10ml - - CC NGH

TPMT Pyrosequencing Blood or Buccal swabs


- SDGS -

TNF alpha Blood Venous/ capillary

S Gel 1ml - - CC PRU

Trace elements - - - - - See Cu, Zn, Se, Fe CC RHH

Transcobalamin II assay Blood Venous Plain universal

5ml Discuss

Discuss with consultant haematologist

H Discuss

Transferrin Blood Venous S. Gel 2ml - - CC NGH

Transferrin IEF Blood Venous S. Gel 2ml - - CC NAT


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Transfusion reaction - - - - - See detailed section. Discuss with consultant haematologist

H -

Transketolase Blood Venous EDTA 5ml - By arrangement only. Store and send frozen

CC RDGH

Triglycerides Blood Venous / capillary

Li Hep plasma

0.5ml 4h - CC -

Trimethylamine Urine Random / 24 hrs

24 hr collected into 10 ml 6M HCL. pH<2

10ml 6-8 weeks

- CCM -

Trimethylaminuria /Fish Odour Syndrome (FMO3)


- SDGS -

Triodothyronine T3 - - - - - See free T3 CC -

Troponin (High Sensitivity Troponin T) Blood Venous /capillary

S. Gel 0.5ml - - CC RHH

Tryptase Blood Venous EDTA / S. Gel

2ml - For allergy disorders +mast cell syndromes

CC NGH

Tumour markers - - - - - See Alpha feto protein + BHCG

CC NGH

Tyrosine hydroxylase deficient dopa-responsive dystonia (Segawa)


- SDGS -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

U/E Blood Venous /capillary

Li Hep plasma

0.5ml 4h See Na, K, Cl, Bicarb, Urea, Creatinine

CC -

UKALL2003/UKALLR3 MRD TRIALS Bone marrow - ACD 2.5-10ml Dependant on time point

Peripheral blood in ACD is acceptable at diagnosis if the WCC is > 20x10^9/l. Research trials.

SDGS -

Uniparental disomy chromosome 7 / Russell Silver Syndrome


- SDGS -

Urea Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Urea Urine 24hr /random


10ml 4h - CC -

Urea Cycle Disorders (OTC, CPS1, NAGS, ASL, ASS, ARG)


- SDGS -

Uric acid Blood Venous /capillary

Li Hep plasma

0.5ml 4h - CC -

Uric acid Urine 24hr /random


10ml 4h - CC -

Urinary electrolytes - - - - - See sodium, potassium

CC -

Urinary free cortisol Urine 24 hr plain bottle

Aliquot 10ml - - CC SAS centre, Leeds

Urine Amylase/creatinine Urine Random urine

Plain universal

1ml 4h Ratio µmmol/creatinine

CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Urine Calcium/creatinine Urine Random urine

Plain universal

1ml 4h Ratio µmmol/creatinine. On second urine passed during day

CC -

Urine copper Urine 24 hr plain bottle

Aliquot 10 ml - - CC NGH

Urine copper Wilson's disease Urine 24hr basal - - - - CC NGH

Urine copper Wilson's disease Urine 2nd 24hr - - - 2 12hrly doses of penicillamine given

CC NGH

Urine creatinine Urine 24 hr plain bottle

Aliquot 10ml 4h For creatinine clearence Blood + Complete Urine collection. Include child's weight & height

CC -

Vaccination responses (Bacterial, Hib, Pneumococcus, Tetanus,Men C)

Blood Venous S. Gel 2-4ml - - CC NGH

Valproate (Valproic acid) Blood Venous /capillary

Li Hep 1ml - - CC RHH

Vancomycin Blood Venous /capillary


Vanilyl Mandelic Acid (VMA) Urine - - - - See VMA CCM -

Very Long Chain Fatty Acids Blood Venous Li Hep plasma (serum / fluoride OK)

1ml 4 weeks

- CCM -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

Very Long Chain Fatty Acids Fibroblasts - Culture medium

- 2 months

Refer to skin biopsies CCM -

Very-long-chain-acyl-CoA dehydrogenase (VLCAD) deficiency

Blood or fibroblasts


- SDGS -

Viral serology (e.g. Polio, Measles, Mumps, Rubella, Varicella)

Blood Venous S. Gel 3-5ml - Discuss with lab CC NGH

Vitamin A Blood Venous Li Hep 3ml - Protect from light at all times

CC RDGH

Vitamin A and E Blood venous Li Hep 3ml - Protect from light at all times

CC RDGH

Vitamin B1 thiamine Blood Venous EDTA 5ml - Request transketolase

CC RDGH

Vitamin B12 - - - - - See Haematinic assay

CC -

Vitamin C Blood - - - -

Contact lab prior to collection

CC RDGH

Vitamin D Blood Venous/Capillary

S. Gel/Li Hep 3ml - Protect from light at all times

CC SAS centre

VKORC1 gene (Warfarin resistance) Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

VMA Urine 24hr Bottle+10ml HCL

- 5-14 days

A random urine sample may be accepted if urgent but discuss with Duty Biochemist prior to sending -

CC -


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

von Willebrand Disease type 1- 3r molecular test


- SDGS -

von Willebrand Disease platelet type (GP1BA gene) molecular test


- SDGS -

Warfarin resistance (VKORC1 gene) and combined vitamin K clotting factor deficiency type 2


- SDGS -

WBC white cell count - - - - - See FBC H -

White cell cystine Blood Venous Li Hep whole blood

3ml Send away


CCM JAMES

White cell enzymes Blood Venous EDTA whole blood

5ml Send away

By arrangement with the duty biochemist (bleep 095). Accepted Monday-Wednesday before 12:00. Add relevant clinical details to form.

CCM -

Wilms Tumour, Frasier syndrome, Denys Drash syndrome, (Wilms Tumour Suppressor) WT1 Gene sequencing and MPLA


- SDGS -

Wilson disease Blood Venous EDTA 0.5-5ml 2-8 weeks

- SDGS -

Zinc Blood Venous Li Hep plasma

1ml - 2ml if copper required

CC NGH


Laboratory Handbook


Test Specimen

type Collection


Lab to send to

Referred to

ZPP (Zinc protoporphyrin) Blood Venous /capillary

EDTA 0.5ml 7 days Can perform along with FBC if 1ml total

H -

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