BlueCross BlueShield of Tennessee Medical Policy Manual

Genetic Testing, Including Chromosomal Microarray Analysis and Next-Generation Sequencing Panels, for Prenatal Evaluation and Evaluation of Children with Developmental Delays/Intellectual Disability, Autism Spectrum Disorder and/or Congenital Anomalies

Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018


Chromosome abnormalities may be a cause of developmental delay, intellectual disability, autism spectrum disorder and congenital anomalies. Traditionally genetic testing has been done through a process of direct visualization or karyotyping. Chromosomal microarray analysis (CMA) for detection of genetic imbalances in infants or children with signs of neurodevelopmental delays or disorders is an alternative to karyotyping. CMA can identify genomic abnormalities associated with a wide range of developmental disabilities, including cognitive impairment, behavioral abnormalities, and congenital abnormalities. CMA testing can detect copy number variants (CNVs) and the frequency of disease-causing CNVs is highest (20%-25%) in children with moderate-to-severe intellectual disability accompanied by malformations or dysmorphic features. CMA increases the diagnostic yield over karyotyping and may impact clinical management decisions.

Developmental disabilities are a group of conditions due to an impairment in physical, learning, language, or behavior areas. The diagnosis of developmental delay (DD) is reserved for children younger than 5 years of age who have significant delay in two or more of the following developmental domains: gross or fine motor, speech/language, cognitive, social/personal, and activities of daily living. Intellectual disability (ID) is a life-long disability diagnosed at or after 5 years of age when IQ testing is considered valid and reliable. Autism spectrum disorder (ASD) is a group of developmental disabilities that can cause significant social, communication and behavioral challenges. A diagnosis of ASD now includes several conditions that used to diagnose separately: autistic disorder, pervasive developmental disorder not otherwise specified, and Asperger syndrome.

Next generation sequencing (NGS) panel testing is another type of genetic testing that allows for simultaneous analysis of a large number of genes and has been proposed as a way to identify single-gene causes of syndromes that have autism as a significant clinical feature in individuals with normal CMA results.




The Tennessee state law applies to individual policies, fully insured accounts, and self-funded accounts that are not governed by ERISA (i.e. governmental plans and church plans). Please keep in mind that it can be very difficult to determine if such a Plan is a governmental plan, (for example some utilities are governmental plans), or a church plan (for example some hospital plans are church plans.) This mandate applies to such accounts that are delivered, issued for delivery, amended or renewed on or after January 1, 2007. This mandate does not apply to self-funded accounts that are governed by ERISA unless an ERISA governed self-funded account's plan language, Explanation of Coverage (EOC), or Summary Plan Description provides coverage for these particular disorders. An ERISA governed self-funded plan's language will govern application of this policy to a plan. In addition, other federal laws will preempt this provision. In particular, the Federal Employees Program is governed by federal law and contains a provision that preempts claims and benefits similar to ERISA.

The provisions of this mandate concern autism spectrum disorders and are applicable to individuals of less than twelve (12) years of age.

Tennessee Code Annotated, Title 56 Insurance, Chapter 7 Policies and Policyholders, Part 23 Mandated Insurer or Plan Coverage 56-7-2367. Autism spectrum disorders.

(a) As used in this section, "autism spectrum disorders" means neurological disorders, usually appearing in the first three (3) years of a person's life that affect normal brain functions and are typically manifested by impairments in communication and social interaction, as well as restrictive, repetitive, and stereotyped behaviors.


(b) A contract or policy of an insurer that provides benefits for neurological disorders, whether under an individual or group health insurance policy providing coverage on an expense-incurred basis, an individual or group service contract issued by a health maintenance organization, a self-insured group arrangement to the extent not preempted by federal law or a managed health care delivery entity of any type or description shall provide benefits and coverage for treatment of autism spectrum disorders that are at least as comprehensive as those provided for other neurological disorders. These benefits and coverage for treatment shall be provided to any person less than twelve (12) years of age.



The following are examples of Next Generation Sequencing (NGS) panel testing available: Greenwood Genetics Center offers an NGS panel for syndromic autism that includes 83 genes. The Emory Genetics Laboratory offers an NGS ASD panel. The clinical utility and effect on health care outcomes is not known, therefore these tests are considered investigational.


Agency for Healthcare Research and Quality. (2015, June).  Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder. Retrieved September 4, 2015 from

American Academy of Neurology. (March 2012) Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Retrieved March 13, 2012 from

American Academy of Pediatrics (AAP). (2014).Comprehensive evaluation of the child with intellectual disability or global developmental delays. Retrieved September 8, 2017 from

American College of Medical Genetics and Genomics (ACMG). (2013). ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genetics in Medicine, 15 (11), 901-909.

American College of Obstetricians and Gynecologists. (December 2016). ACOG committee opinion # 682. Microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Retrieved September 9, 2017 from

BlueCross BlueShield Association. Medical Policy Reference Manual. (8:2017). Genetic testing for developmental delay/intellectual disability, autism spectrum disorder, and congenital anomalies (2.04.59) Retrieved August 27, 2018 from BlueWeb. (45 articles and/or guidelines reviewed)

BlueCross BlueShield Association. Medical Policy Reference Manual. (4:2017). Invasive prenatal (fetal) diagnostic testing (2.04.116) Retrieved August 27, 2018 from BlueWeb. (16 articles and/or guidelines reviewed)

Hillman, S.C., McMullan, D.J., Hall, G., Togneri, F.S., James, N., et al. (2013). Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound in Obstetrics and Gynecology, 41, 610-620.  (Level 1 evidence)

Lovrecic, L., Remec, Z., Volk, M., Rudolf, G., Writzl, K., & Peterlin, B. (2016). Clinical utility of array comparative genomic hybridization in prenatal setting. BMC Medical Genetics, 17, 81. (Level 4 evidence)

National Institute for Health and Care Excellence (2017, December) Autism spectrum disorder in under 19s: recognition, referral and diagnosis. Retrieved August 27, 2018 from 

Redin,C., GĂ©rard, B., Lauer, J., Herenger, Y., Muller, J., Quartier, A., et. al., (2014). Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Journal of Medical Genetics, 51, 724-736. (Level 3 evidence)

Technology Evaluation Center. (2015, August). Special report: Chromosomal microarray for the genetic evaluation of patients with global developmental delay, intellectual disability, and autism spectrum disorder. Retrieved September 22, 2015 from

Tennessee Code: Title 56 Insurance: Chapter 7 Policies and Policyholders: Part 23 Mandated Insurer or Plan Options: 56-7-2367. Autism spectrum disorders. Retrieved August 27, 2018 from




Policies included in the Medical Policy Manual are not intended to certify coverage availability. They are medical determinations about a particular technology, service, drug, etc. While a policy or technology may be medically necessary, it could be excluded in a member's benefit plan. Please check with the appropriate claims department to determine if the service in question is a covered service under a particular benefit plan. Use of the Medical Policy Manual is not intended to replace independent medical judgment for treatment of individuals. The content on this Web site is not intended to be a substitute for professional medical advice in any way. Always seek the advice of your physician or other qualified health care provider if you have questions regarding a medical condition or treatment.

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