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Clinical Policy Title: Genetic testing for autism spectrum disorders

Clinical Policy Number: CCP.1124

Effective Date: January 1, 2014

Initial Review Date: July 16, 2014

Most Recent Review Date: July 10, 2019

Next Review Date: July 2020

ABOUT THIS POLICY: AmeriHealth Caritas has developed clinical policies to assist with making coverage determinations. AmeriHealth Caritas’

clinical policies are based on guidelines from established industry sources, such as the Centers for Medicare & Medicaid Services (CMS), state

regulatory agencies, the American Medical Association (AMA), medical specialty professional societies, and peer-reviewed professional

literature. These clinical policies along with other sources, such as plan benefits and state and federal laws and regulatory requirements,

including any state- or plan-specific definition of “medically necessary,” and the specific facts of the particular situation are considered by

AmeriHealth Caritas when making coverage determinations. In the event of conflict between this clinical policy and plan benefits and/or state or

federal laws and/or regulatory requirements, the plan benefits and/or state and federal laws and/or regulatory requirements shall control.

AmeriHealth Caritas’ clinical policies are for informational purposes only and not intended as medical advice or to direct treatment. Physicians

and other health care providers are solely responsible for the treatment decisions for their patients. AmeriHealth Caritas’ clinical policies are

reflective of evidence-based medicine at the time of review. As medical science evolves, AmeriHealth Caritas will update its clinical policies as

necessary. AmeriHealth Caritas’ clinical policies are not guarantees of payment.

Coverage policy

AmeriHealth Caritas considers the use of once-per-lifetime genetic testing for autism spectrum disorders

to be clinically proven and, therefore, medically necessary when the results have the potential to impact

the member’s care management and all of the following criteria are met:

The clinical diagnosis of autism spectrum disorder meets the Diagnostic and Statistical Manual -

Fifth Edition criteria (American Psychiatric Association, 2013).

There is a care-coordinating, multidisciplinary team with expertise in autism spectrum disorders

available for genetic and behavioral counseling for a tiered evaluation, which includes: (a) a

primary care physician; (b) a geneticist (e.g., a physician or a licensed genetic counselor); (c)

behavioral health specialists; (d) speech/language testing; and (e) a developmental/neurologic

assessment.

Family desire for engagement with the integrated multidisciplinary team is documented in the

clinical record.

A tiered approach to genetic testing is medically necessary for an etiologic diagnosis of autism spectrum

disorder, when ordered in consultation with genetic counseling (Schaefer, 2013):

First-tier tests:

Policy contains:

• Autism spectrum disorders.

• Chromosomal microarray

analysis.

• Developmental delay.

• Screening.

• Whole exome sequencing.

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o Targeted genetic testing for suspected genetic syndromes or conditions that are known

etiologies of autism spectrum disorder:

22q11.2 deletions, including velocardiofacial (Shprintzen) syndrome.

Angelman syndrome.

CHARGE syndrome.

de Lange syndrome.

Fragile X syndrome.

MED12 disorders (including Lujan-Fryns syndrome).

Prader-Willi syndrome.

Phosphatase and tensin-associated disorders (e.g., Cowden syndrome,

Bannayan-Riley-Ruvalcaba syndrome).

Rett syndrome.

Smith-Lemli-Opitz syndrome.

Smith-Magenis syndrome.

Sotos syndrome.

Tuberous sclerosis.

o Chromosomal microarray analysis for non-syndromic or idiopathic autism spectrum

disorders: oligonucleotide array-comparative genomic hybridization or single-nucleotide

polymorphism array.

o FMR1 (fragile X mental retardation 1) testing and high-resolution chromosome studies

(karyotype) for fragile X syndrome for any of the following indications:

Routine testing in male members with unexplained autism spectrum disorders.

In female members with autism spectrum disorders with either:

− A phenotype compatible with fragile X syndrome.

− A family history positive for X-linked neurodevelopmental disorders.

− Premature ovarian insufficiency, ataxia, or tremors in close relatives.

Second-tier tests:

o Methyl CpG binding protein 2 sequencing for all females with autism spectrum

disorders.

o Methyl CpG binding protein 2 duplication testing in males, if phenotype is suggestive

(e.g., drooling, recurrent respiratory, infections, hypotonic facies).

o Phosphatase and tensin homolog testing if the head circumference is > 2.5 standard

deviations above the mean.

Limitations:

All other uses of genetic testing for autism spectrum disorders are considered investigational and,

therefore, not medically necessary, including screening.

In the absence of a consultation by a clinical geneticist, routine use of syndrome-specific genetic tests is

not medically necessary for members with non-syndromic autism spectrum disorders, including

(Schaefer, 2013):

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• CDLK5 testing.

• Cholesterol/7 dehydrocholesterol.

• Chromosome 15 methylation/UBE3A gene testing.

• Methylation/epigenetic testing.

• Mitochondrial gene sequencing/oligoarray.

• NSD1 testing.

• Reduction-oxidation studies.

• Screening for disorders of purine/pyrimidine metabolism (serum and urine uric acid).

• Screening for folate-sensitive fragile sites.

• Selected neurometabolic screening (mucopolysaccharides, creatinine phosphokinase, amino

acids, organic acids, lactate, ammonia, acylcarnitine profile).

Alternative covered services:

In-network visits to primary care physicians, behavioral health specialists, and genetic counselors, as

well as routine laboratory and radiographic, including magnetic resonance imaging, evaluations.

Background

Autism spectrum disorders are lifelong conditions impacting the individual’s capacity to communicate,

interact socially, and manage repetitive behaviors (Centers for Disease Control and Prevention, 2018).

They comprise several conditions that used to be diagnosed separately: autistic disorder, pervasive

developmental disorder not otherwise specified, and Asperger syndrome. They occur in all racial, ethnic,

and socioeconomic groups, but are about four times more common among boys than girls.

The Diagnostic and Statistical Manual — Fifth Edition (American Psychiatric Association, 2013) clinical

criteria for consideration of autism spectrum disorders involve both communication disorders and a high

degree of sensitivity to routine and repetitive behaviors (see Appendix). By age 2, a diagnosis by an

experienced professional is very reliable, although autism spectrum disorders can sometimes be

detected earlier. However, many children do not receive a final diagnosis until much older.

Epidemiological studies suggest a strong role for genetics in their etiology, as multiple genes have been

implicated (Centers for Disease Control and Prevention, 2018). Individuals may express a variety of

pervasive neurologic and developmental delays that feature in recognized single gene disorders or

clinically well-defined syndromes, ranging from significant impairment to the ability to function in

modern society.

There is high genetic heterogeneity in autism spectrum disorder leading to challenges in obtaining and

interpreting genetic testing in a clinical setting. Approximately 4 percent to 5 percent of persons with

syndromic autism spectrum disorder have a clinically defined somatic and neurobehavioral phenotype

(e.g., fragile X syndrome), and the diagnosis is typically confirmed by targeted genetic testing

(Fernandez, 2017). Approximately 20 percent of cases are molecularly defined through genome-wide

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testing, because they cannot be easily clinically defined due to variable somatic abnormalities. The

remaining 75 percent are classified as undefined or unexplained (Fernandez, 2017).

Genetic testing for autism spectrum disorder is intended to establish an etiologic diagnosis rather than a

clinical diagnosis in isolation. Available genetic testing options range in order of resolution and

complexity based on the particular types of genetic material involved (Shen, 2014; Sun, 2015). The

genetic variants may involve a single nucleotide (the most common type), a single gene, an entire region

of a chromosome involving multiple genes, or the entire chromosome. Karyotyping involves the gross

examination of large chromosomal segments in a group of cells; chromosome banding methods are an

extension of karyotyping. Cytogenetic testing (or chromosome testing) examines the number and

structure of chromosomes. Fluorescence in situ hybridization identifies the location of a particular gene

within an individual’s chromosomes.

More advanced, sophisticated microarray analyses identify deoxyribonucleic acid composition of all or

part of the genome. Such tools can simultaneously analyze variants of nucleotides within

deoxyribonucleic acid in larger amounts of genetic information. Chromosomal microarray analysis

(microarray-based comparative genomic hybridization) detects very small chromosomal imbalances

(e.g., extra [micro-duplication] or missing [micro-deletion] pieces of deoxyribonucleic acid). Single

nucleotide polymorphism microarrays (single gene sequencing or targeted gene panels) detect small

nucleotide sequence variants at a single site in deoxyribonucleic acid. Whole exome sequencing detects

variants in deoxyribonucleic acid involved in protein-coding (exons). Whole genome sequencing scans

for mutations in any part of the genome, but is largely confined to research use.

There is no cure for autism spectrum disorder, but early intervention can improve a child’s development

and assist the family with understanding and providing support to learn important skills and improve the

individual’s capacity for integration into society (Centers for Disease Control and Prevention, 2018).

Facilitating earlier and accurate diagnosis can expedite access to state early intervention treatment

services and treatment for particular symptoms. Many states provide coverage and share information to

facilitate communication with educational and community resources.

Searches

AmeriHealth Caritas searched PubMed and the databases of:

UK National Health Services Centre for Reviews and Dissemination.

Agency for Healthcare Research and Quality.

The Centers for Medicare & Medicaid Services.

The Cochrane Library.

We conducted searches on May 30, 2019. Search terms were: “genetic testing/methods” (MeSH),

“autism spectrum disorder” (MeSH), “autism,” and “autism spectrum disorder.”

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We included:

Systematic reviews, which pool results from multiple studies to achieve larger sample sizes

and greater precision of effect estimation than in smaller primary studies. Systematic

reviews use predetermined transparent methods to minimize bias, effectively treating the

review as a scientific endeavor, and are thus rated highest in evidence-grading hierarchies.

Guidelines based on systematic reviews.

Economic analyses, such as cost-effectiveness, and benefit or utility studies (but not simple

cost studies), reporting both costs and outcomes — sometimes referred to as efficiency

studies — which also rank near the top of evidence hierarchies.

Findings

The rationale for a genetic evaluation is to identify an underlying cause for the diagnosis of autism

spectrum disorder, provide genetic counseling and targeted testing of at-risk family members, and

contribute to medical management (Schaefer, 2013). Establishing a cause can facilitate access to

necessary services, empower the family, prevent morbidity, and eliminate unnecessary diagnostic tests.

A systematic review (Miller, 2010) of 33 studies (n = 21,698 total participants with developmental

delay/intellectual disability, multiple congenital anomalies, and autism spectrum disorders) found

chromosomal microarray analysis detected pathogenic genomic imbalances with an average diagnostic

yield of 12.2 percent across all studies, approximately 10 percent more than G-banded karyotype alone.

The authors recommended chromosomal microarray analysis as the first-tier genetic test, in place of G-

banded karyotype for this population.

Major medical societies have referred to global developmental delay and intellectual disability as

relatively common pediatric conditions and recommend genetic testing as a diagnostic approach based

on published reports, mostly consisting of medium-to-large case series inclusive of these diagnostic

tests. The American Academy of Pediatrics (Millichap, 2014) recommended a diagnostic approach to

genetic testing for autism and other developmental deficits. Chromosomal microarray is designated as a

first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere

tests for the child with intellectual disability of unknown etiology. Fragile X syndrome testing remains an

important first-line test, as recently published literature supports the importance of testing for inborn

errors of metabolism in this population. The role of brain magnetic resonance imaging remains

important in certain patients. The use of whole-genome testing is gaining popularity.

The American College of Medical Genetics and Genomics (Schaefer, 2013) developed practice guidelines

for the diagnosis of autism spectrum disorder that aim to improve the life of the affected individual. The

organization emphasized the importance of a cost-effective, tiered approach to the diagnostic

evaluation. They recommended a full three-generation family history and pedigree analysis to identify

the following genetic syndromes that are known etiologies of autism spectrum disorders, and targeted

genetic testing for diagnostic confirmation of:

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22q11.2 deletions including velocardiofacial (Shprintzen) syndrome.

Angelman syndrome.

CHARGE syndrome.

de Lange syndrome.

Fragile X syndrome.

MED12 disorders (including Lujan-Fryns syndrome).

Prader-Willi syndrome.

Phosphatase and tensin-associated disorders (e.g., Cowden syndrome, Bannayan-Riley-

Ruvalcaba syndrome).

Rett syndrome.

Smith-Lemli-Opitz syndrome.

Smith-Magenis syndrome.

Sotos syndrome.

Tuberous sclerosis.

For individuals without an identifiable syndromic etiology, genetic testing is indicated to identify a

specific genetic cause and other comorbid conditions that may benefit from treatment (Schaefer, 2013).

Such a strategy has improved the diagnostic yield of genetic testing for autism spectrum disorder from 6

percent to 12 percent to 30 percent to 40 percent. There are no published studies demonstrating clinical

improvements in outcomes of children subjected to such testing, but anecdotal reports suggest that

early initiation of behavioral health interventions, speech therapy, and educational assistance have

improved the quality of life of individuals with autism.

Policy updates:

Since our last update, there has been further information published regarding genetic testing for autism

spectrum disorders.

An Agency for Healthcare Research and Quality Technical Brief (Sun, 2015) summarized, but did not

systematically review, published information on genetic tests clinically available in the United States that

detect genetic markers predisposing to developmental disorders, including autism spectrum disorders.

They searched the National Center for Biotechnology Information’s Genetic Testing Registry to identify

laboratory-developed genetic tests and included literature published since 2000 that examined test

validity and clinical utility. They did not identify any economic studies performed in the U.S. context.

Studies determining diagnostic accuracy (e.g., sensitivity, specificity, or predictive values) are largely

absent. The authors identified only one case-control study of 18 participants that examined the

sensitivity and specificity of a diagnostic model to predict autism spectrum disorder based on single-

nucleotide polymorphisms and magnetic resonance imaging. Diagnostic performance was typically

reported as diagnostic yield, noting that improved diagnostic yield does not necessarily lead to improved

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health outcomes. Clinical utility was inferred from indirect measures of impact on clinical and family

decisions, rather than from direct measures of clinical outcomes.

The evidence for genetic testing for autism spectrum disorder consisted of studies of analytic validity

and clinical utility expressed as intermediate outcomes, as follows (Sun, 2015):

Three case-control studies (one included a case series) of the analytic validity of next-generation

sequencing, chromosomal microarray analysis, and quantitative fluorescent polymerase chain

reaction.

Thirty-five case series reporting diagnostic yield for a range of genetic testing options, the

majority of which was chromosomal microarray analysis.

Three case series and one survey that assessed the impact of whole exome sequencing,

chromosomal microarray analysis, and fluorescence in situ hybridization on clinical management

or family decisions.

Tammimies (2015) tested a consecutive series of 258 unrelated children with autism spectrum disorder

who were recruited between 2008 and 2013 in Newfoundland and Labrador, Canada. The children

underwent detailed assessments to define morphology scores based on the presence of major

congenital abnormalities and minor physical anomalies and were stratified into three groups of

increasing morphological severity: essential, equivocal, and complex (scores of 0 – 3, 4 – 5, and ≥ 6,

respectively). All children underwent chromosomal microarray analysis, with whole exome sequencing

performed for 95 proband (index child)-parent trios.

Of the 258 children, 24 (9.3 percent) received a molecular diagnosis from chromosomal microarray

analysis and eight of 95 (8.4 percent) from whole exome sequencing. The yields were statistically

different between the morphological groups. Among the 95 children who underwent both chromosomal

microarray analysis and whole exome sequencing, 15 children (15.8 percent) had an identifiable genetic

etiology. This included two children who received molecular diagnoses from both tests. The combined

yield was significantly higher in the group classified as complex compared to the group classified as

essential (P = .002).

The United States Preventive Services Task Force (Siu, 2016) concluded that the evidence was

insufficient to assess the balance of benefits and harms of clinical (not genetic) screening for autism

spectrum disorder in young children ages 18 months to 30 months for whom no concerns of autism

spectrum disorder have been raised by their parents or a clinician. The American Academy of Family

Physicians (2016) agreed with this statement. In contrast, the American Academy of Pediatrics (2016)

recommended that all children be clinically screened for autism spectrum disorder at ages 18 months

and 24 months, along with regular developmental surveillance. Clinical diagnosis relies on the child’s

behavior and developmental progress.

Tremblay (2018) surveyed pediatricians working in a developmental clinic each time they ordered

chromosomal microarray analysis for a child with developmental disorders. The investigators reviewed

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clinical charts and analyzed the results using mixed methodology. Ninety-seven percent (73/76) of

surveys were completed. Among the 73 children for whom chromosomal microarray analysis was

ordered, 81 percent were tested. Of those, 66 percent of the results were normal, 19 percent were

abnormal and contributed to explaining the condition, and 12 percent were abnormal but of unknown

significance.

Pediatricians reported 36 percent of parents had difficulties understanding genetic testing and 40

percent seemed anxious (Tremblay, 2018). Less than half of the providers anticipated negative impacts;

74 percent expected that the most helpful result for their patient would be an abnormal result

explaining the disorder. The majority of pediatricians expected testing to have positive impacts on

children and families. The themes raised were (Tremblay, 2018):

Clarifying the diagnosis (56 percent).

Understanding the etiology of the condition (55 percent).

Enabling prenatal diagnosis/counseling (43 percent).

Improving medical care for the child (15 percent).

Decreasing parental guilt/anxiety (8 percent).

In a clinical population of 100 well-characterized children with autism spectrum disorder, genetic testing

involving microarray, fragile X syndrome testing, and targeted gene panels consistently sequenced 161

genes associated with risk of autism spectrum disorder (Kalsner, 2018). They compared the frequency of

rare variants identified in individual genes with that reported in the Exome Aggregation Consortium

database. Copy number variants believed to contribute to risk of autism spectrum disorder were

identified in 12 percent of children. Eleven children had likely pathogenic variants on gene panel, yet,

after careful analysis, none was considered likely causative of disease. KIRREL3 variants were identified

in 6.7 percent of children compared to 2 percent of children in the Exome Aggregation Consortium

database, suggesting a potential role for KIRREL3 variants in autism risk. Children with KIRREL3 variants

more often had minor facial dysmorphism and intellectual disability. These findings reinforce the need

for racial/ethnic diversity in large-scale genomic databases used to identify variants that contribute to

disease risk.

Lovrečić (2018) examined the diagnostic efficacy of chromosomal microarray analysis in cohorts with

autism spectrum disorder and noted data are still accumulating. In a group of 150 individuals with an

isolated or complex autism spectrum disorder, a genome-wide copy number variant analysis using the

Agilent microarrays identified 11 (7.3 percent) pathogenic copy number variants and 15 (10.0 percent)

variants of unknown significance, with the highest proportion of pathogenic copy number variants in the

subgroup of participants with complex autism spectrum disorder (14.3 percent). The authors concluded

that the diagnostic efficacy of chromosomal microarray analysis in their cohort was comparable to that

of others previously reported and identified an important proportion of cases with a genetic etiology of

autism spectrum disorder.

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In 2019, we added a systematic review (Waggoner, 2018) and updated the criteria for genetic testing to

the coverage policy based on a guideline by the American College of Medical Genetics and Genomics

(Schaefer, 2013). The changes clarify targeted testing for single-gene syndromes or conditions in tiered

testing. The policy ID was changed from CP# 11.04.02 to CCP.1124.

References

Professional society guidelines/other:

American Academy of Family Physicians Clinical Preventive Service Recommendation — Autism

Spectrum: Children (Aged 18 to 30 Months). http://www.aafp.org/patient-care/clinical-

recommendations/all/autism-children.html. Accessed May 30, 2019.

American Academy of Pediatrics statement on U.S. Preventive Services Task Force final recommendation

statement on autism screening. https://www.aap.org/en-us/about-the-aap/aap-press-room/Pages/AAP-

Statement-on-US-Preventive-Services-Task-Force-Final-Recommendation-Statement-on-Autism-

Screening.aspx. Published February 16, 2016. Accessed May 30, 2019.

American Psychiatric Association. Diagnostic and Statistical Manual - Fifth Edition. Washington, DC:

American Psychiatric Association; 2013.

Centers for Disease Control and Prevention. ASD Homepage. What is autism spectrum disorder?

https://www.cdc.gov/ncbddd/autism/facts.html. Last reviewed May 3, 2018. Accessed May 31, 2019.

Miller DT, Adam MP, Aradhya S, et al. Consensus statement: Chromosomal microarray is a first-tier

clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum

Genet. 2010;86(5):749-764. Doi: 10.1016/j.ajhg.2010.04.006.

Millichap JG, Millichap JJ. AAP Genetics diagnostic approach to intellectual disability or global

developmental delay. Pediatr Neurol Briefs. 2014;28(10):79-80. Doi: 10.15844/pedneurbriefs-28-10-8.

Schaefer GB, Mendelsohn NJ. Professional Practice and Guidelines Committee. Clinical genetics

evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet

Med. 2013;15(5):399-407. Doi: 10.1038/gim.2013.32.

Sun F, Oristaglio J, Levy S, et al. Genetic Testing for Developmental Disabilities, Intellectual Disability,

and Autism Spectrum Disorder [Internet]. Rockville, MD: Agency for Healthcare Research and Quality.

Technical Brief No. 23. https://www.ncbi.nlm.nih.gov/books/NBK304462/. Published June 2015.

Accessed May 31, 2019.

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Siu A, Bibbins-Domingo K, Grossman, DC, et al. Screening for autism spectrum disorder in young

children: US Preventive Services Task Force recommendation statement. JAMA. 2016;315(7):691-696.

Doi: 10.1001/jama.2016.0018.

Peer-reviewed references:

Fernandez BA, Scherer SW. Syndromic autism spectrum disorders: moving from a clinically defined to a

molecularly defined approach. Dialogues Clin Neurosci. 2017 Dec;19(4):353-371.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789213/pdf/DialoguesClinNeurosci-19-353.pdf.

Accessed May 31, 2019.

Kalsner L, Twachtman-Bassett J, Tokarski K, et al. Genetic testing including targeted gene panel in a

diverse clinical population of children with autism spectrum disorder: Findings and implications. Mol

Genet Genomic Med. 2018;6(2):171-185. Doi: 10.1002/mgg3.354.

Lovrečić L, Rajar P, Volk M, et al. Diagnostic efficacy and new variants in isolated and complex autism

spectrum disorder using molecular karyotyping. J Appl Genet. 2018;59(2):179-185. Doi: 10.1007/s13353-

018-0440-y.

Shen J, Lincoln S, Miller DT. Advances in genetic discovery and implications for counseling of patients

and families with autism spectrum disorders. Curr Genet Med Rep. 2014;2(3):124-134. Doi:

10.1007/s40142-014-0047-5.

Tammimies K, Marshall C, Walker S, et al. Molecular diagnostic yield of chromosomal microarray

analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA. 2015;314:895-

903. Doi: 10.1001/jama.2015.10078.

Tremblay I, Laberge AM, Cousineau D, et al. Paediatricians' expectations and perspectives regarding

genetic testing for children with developmental disorders. Acta Paediatr. 2018;107(5):838-844. Doi:

10.1111/apa.14203.

Waggoner D, Wain KE, Dubuc AM, et al. Yield of additional genetic testing after chromosomal

microarray for diagnosis of neurodevelopmental disability and congenital anomalies: A clinical practice

resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med.

2018;20(10):1105-1113. Doi: 10.1038/s41436-018-0040-6.

Centers for Medicare & Medicaid Services National Coverage Determinations: No National Coverage Determinations as of the writing of this policy. Local Coverage Determinations:

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No Local Coverage Determinations as of the writing of this policy.

Commonly submitted codes Below are the most commonly submitted codes for the service(s)/item(s) subject to this policy. This is not an exhaustive list of codes. Providers are expected to consult the appropriate coding manuals and bill accordingly.

CPT Code Description Comments

81228 Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants.

81229 Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism variants for chromosomal abnormalities.

81414

Cardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); duplication/deletion gene analysis panel, must include analysis of at least 2 genes, including KCNH2 and KCNQ1

81413

Cardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel, must include sequencing of at least 10 genes, including ANK2, CASQ2, CAV3, KCN

ICD-10 Code Description Comments

F84.0 Autistic disorder

F84.5 Asperger's syndrome

F84.8 Other pervasive developmental disorders

F84.9 Pervasive developmental disorder, unspecified

I45.81 Long QT syndrome

HCPCS Level II Code

Description Comment

N/A

Appendix.

Diagnostic and Statistical Manual-V criteria for the diagnosis of autism spectrum disorders.

Deficits in use or understanding of social communication and social interaction in multiple contexts, not

accounted for by general developmental delays, and manifest by all three of the following:

Deficits in nonverbal communicative behaviors used for social interaction, ranging from poorly

integrated verbal and nonverbal communication, through abnormalities in eye contact and body

language or deficits in understanding and use of nonverbal communication, to total lack of facial

expression or gestures.

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Deficits in social-emotional reciprocity, ranging from abnormal social approach and failure of

normal back and forth conversation through reduced sharing of interests, emotions and affect

and response to total lack of initiation of social interaction.

Deficits in developing and maintaining relationships appropriate to developmental level (beyond

those with caregivers), ranging from difficulties adjusting behavior to suit different social

contexts through difficulties in sharing imaginative play and in making friends to an apparent

absence of interest in people.

AND

Restricted, repetitive patterns of behavior, interests or activities as manifested by two of the

following:

o Stereotyped or repetitive speech, motor movements or use of objects (e.g., simple

motor stereotypies, echolalia, repetitive use of objects or idiosyncratic phrases).

o Excessive adherence to routines, ritualized patterns of verbal or nonverbal behavior, or

excessive resistance to change (e.g., motoric rituals, insistence on same route or food,

repetitive questioning, or extreme distress at small changes).

o Highly restricted, fixated interests abnormal in intensity or focus (e.g., strong

attachment to or preoccupation with unusual objects, excessively circumscribed or

perseverative interests).

o Hyper-or hypo-reactivity to sensory input or unusual interest in sensory aspects of

environment (e.g., apparent indifference to pain/heat/cold, adverse response to specific

sounds or textures, excessive smelling or touching of objects, fascination with lights or

spinning objects).

Source: American Psychiatric Association (2013).