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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
4
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:
6
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
7
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
8
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.
9
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.
10
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:
11
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.
12
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).