PGD X-Linked™ - PGD for X-linked diseases

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PGD X-Linked™

PGD for X-linked diseases


Experience mattersJanuary 2005 – April 2015


Sex-linked diseases

Inheritance of some genetic diseases is linked to a sex chromosome. These disordersare also called sex-linked diseases. Approximately 800 various genes were identified onthe X chromosome. The Y chromosome contains only 45 genes, which arepredominantly connected with the determination of male sex and withspermatogenesis. For this reason, sex-linked diseases are primarily determined by thepresence of abnormal variations of genes located on the X chromosome. Tt hasbecome customary to refer to sex-linked diseases as X-linked diseases.


The PGD X-linked™ test consists of determination with QF-PCR technique, which sexchromosome (normal or abnormal) has been inherited by the embryo. In some cases,it is enough to determine the chromosomal sex of the embryo in order to establishwhether it contains an altered chromosome.

The test can be carried out on material collected by biopsy on the 5th/6th day of the embryo culture. Because of the risk ofmisdiagnosis caused by possible presence of any extra sperm near the egg when using standard in vitro fertilization, the ICSIprocedure is recommended. In each case preformence of PGD X-Linked™ is treated individually and preceded by examination ofthe material from the prospective parents. Following the tests embryos are transferred in a frozen cycle.

What is PGD X-Linked™?


Case 1


Case 2


Case 3


Case 4


Case 5


What we can diagnose?

We can perform PGD X-Linked™

for all known X-linked diseasesbased on the current ClinVar database

1)

The list of all disorders is available at: http://www.invictagenetics.com/pgd-diagnosis/brca-12-test-prophylaxis-

early-diagnosis-breast-cancer-2/

1) http://www.ncbi.nlm.nih.gov/clinvar/ [11.04.2016]

http://www.invictagenetics.com/pgd-diagnosis/brca-12-test-prophylaxis-early-diagnosis-breast-cancer-2/

http://www.ncbi.nlm.nih.gov/clinvar/


• It allows to indirectly find embryo’s genetic status by determining which sex chromosome (normal or abnormal) has been inherited by the embryo.

• It optimizes diagnostic and treatment costs – thus being the alternative for PGD ONE™ or PGD ONE FM™ for single-gene diseases.

• It can be combined with PGS-NGS 360˚™ – at an attractive price

• It allows all (female and male) embryos testing – the alternative for selection based on sex differentiation. Thus, all healthy embryos (without an abnormal chromosome) can be available for transfer, thereby increasing the chances of pregnancy (higher effectiveness of a single cycle).

Why is it worth to perform PGD X-Linked™?


Couples carrying a sex-linked single-gene disease (where partners carry a mutation in genes located on either X or Y chromosome)

Indications for PGD X-Linked™

The test allows reduction of single-gene disease risk in children of the couple carryingthis disease. The genetic material of both female and male embryos is verified. This isthe alternative for selection based on sex differentiation aimed at avoiding an X-linkeddisease (in most cases, female embryos will only be the carriers of the disease, and thedisease will not manifest). Thanks to the test, its optimized costs, the couple will alsoget the chance of having a male child.


• Free PGD BIOPSY KIT™

• Free shipment

• Online access to results

INVICTA Genetic Laboratory offers:


Cooperation step by step


Cooperation step by step cont.


In PGD X-Linked™, the presence and number of sex chromosomes is determined. The test allowsto determinate the proper chromosomal sex: female (XX) or male (XY), and the presence of thefollowing syndromes: Turner (X0), Klinefelter (XXY), Jacobs (XYY), X Trisomy (XXX) and XTetrasomy (XXXX). The test does not determine the genetic status of autosomal chromosomes.The test does not detect segmental aneuploidies, germinal mosaicism concerning aneuploidies,structural chromosome disorders (e.g. chromosome fragment deletions, inversions,duplications). The test does not include targeted, direct diagnosis of the abnormal gene. The testallows only for indirect verification of whether the embryo has inherited an abnormalgene/disease linked to a sex chromosome. The test allows to differentiate which of maternal Xchromosomes has been inherited. To this aim, not less than 8 molecular markers will besubjected to the analysis. The test may also be used in the case of diseases caused by a mutationlocated on the X chromosome.

Limitations


Next Generation Sequencing

The world’s first use of NextGeneration Sequencing (NGS) in the preimplantation geneticdiagnosis (PGD) for X-linked diseases.

INVICTA Genetic Laboratory: May 2015


Literature1. Kim IW, Khadilkar AC, Ko EY, Sabanegh ES Jr.47,XYY Syndrome and Male Infertility. Rev Urol. 2013;15(4):188-96. Review.2. Hutaff-Lee C, Cordeiro L, Tartaglia N.Cognitive and medical features of chromosomal aneuploidy. HandbClinNeurol.

2013;111:273-9. Review.3. Li JN, Carrero IG, Dong JF, Yu FL. Complexity and diversity of F8 genetic variations in the 1000 genomes. J

ThrombHaemost. 2015;13(11):2031-40. 4. Thrasher BJ, Hong LK, Whitmire JK, Su MA.Epigenetic Dysfunction in Turner Syndrome Immune Cells. CurrAllergyAsthma

Rep. 2016;16(5):36. Review.5. Salzano A, Arcopinto M, Marra AM, Bobbio E, Esposito D, Accardo G, Giallauria F, Bossone E, Vigorito C, Lenzi A,

Pasquali D, Isidori AM, Cittadini A.Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives. Eur J Endocrinol. 2016;175(1):R27-40. Review.

6. Hardelin JP, Dodé C.The Complex Genetics of Kallmann Syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. Sex Dev. 2008;2(4-5):181-93. Review.

7. Aartsma-Rus A, Ginjaar IB, Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. J MedGenet. 2016;53(3):145-51. Review.

8. Aartsma-Rus A, Ginjaar IB, Bushby K.Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease withunique and characteristic features. J Med Genet. 2016;53(3):145-51. Review.

9. Suri D, Rawat A, Singh S.X-linked Agammaglobulinemia. Indian J Pediatr. 2016;83(4):331-7. Review.10. Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM.X-linked hypohidrotic ectodermal dysplasia.

Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet. 2008;74(3):252-9. 11. Touraine RL, Zeniou M, Hanauer A.A syndromic form of X-linked mental retardation the Coffin-Lowry syndrome. Eur J

Pediatr. 2002 Apr;161(4):179-87. Review.12. Rheault MN.Women and Alport syndrome. PediatrNephrol. 2012;27(1):41-6. Review


Krzysztof Łukaszuk, Prof. Ph.D., M.D.Medical Director of INVICTA Fertility Clinics

21 Doctors specializing in infertility treatment

Sebastian Pukszta, Ph.D.Director of INVICTA Genetic Laboratory

35 specialists in molecular biology, cytogenetics and microbiology

Joanna Liss, Ph.DDirector of INVICTA IVF Laboratory

18 embryologists

Counseling

Karolina Ochman, Ph.D.Director of INVICTA Genetic Consulting Team

3 genetics counselors

Genetics

Embryology

Clinical

Our TeamComprehensive approach to ART


INVICTA GENETICS ul. Trzy Lipy 3, 80-172 GdańskT. +48 58 58 58 804M. [email protected]. invictagenetics.com

About INVICTA GENETICSINVICTA is an experienced genetics laboratory (since 2000)

offering wide range PGD / PGS tests using state of art Next Generation Sequencing (NGS) techniques.

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PGD X-Linked™ - PGD for X-linked diseases

Health & Medicine