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Coverage criteria policies

Genetic Testing for Neurodevelopmental Disorders, Epilepsy and Seizure Disorders, and Multiple Congenital Anomalies

These services may or may not be covered by your HealthPartners plan. Please see your plan documents for your specific coverage information. If there is a difference between this general information and your plan documents, your plan documents will be used to determine your coverage.

Administrative Process

Prior authorization is required for genetic testing for neurodevelopmental disorders, epilepsy and seizure disorders, and multiple congenital anomalies.

For genetic testing related to reproductive planning, please see the Genetic Testing: Carrier Screening, Prenatal Screening, Prenatal Diagnosis, and Infertility Evaluation coverage policy.

Coverage

Indications that are covered

Comparative genomic hybridization (CGH) (e.g., karyotype, chromosomal microarray analysis [CMA]) is covered when criteria 1-3 below are met:
  1. The member has documented features, characteristics, or symptoms consistent with a neurodevelopmental disorder, epilepsy or seizure disorder, and/or multiple congenital anomalies.
  2. The test is ordered by a board-certified pediatrician, neurologist, medical geneticist, or advanced-practice nurse in pediatrics, neurology, or genetics.
  3. The tests expected to directly impact management of a neurodevelopmental disorder or epilepsy or seizure disorder or to provide a unifying diagnosis for multiple congenital anomalies.
Genetic testing for Fragile X syndrome (FMR1 gene) is covered when criteria 1-3 below are met:
  1. The member has documented features, characteristics, or symptoms consistent with Fragile X syndrome.
  2. The test is ordered by a board-certified pediatrician, neurologist, medical geneticist, or advanced-practice nurse in pediatrics, neurology, or genetics.
  3. The test is expected to directly impact management of a neurodevelopmental disorder.
Single gene analysis (other than FMR1) and multiple-gene panels are covered when criteria 1-3 below are met:
  1. The member has documented features, characteristics, or symptoms consistent with a neurodevelopmental disorder, epilepsy or seizure disorder, and/or multiple congenital anomalies of probable genetic etiology.
  2. The test has been ordered by a board-certified medical geneticist, developmental pediatrician, or neurologist or advanced practice nurse in genetics, developmental pediatrics, or neurology
  3. The tests expected to directly impact management of a specific, clinically-suspected, neurodevelopmental disorder or epilepsy or seizure disorder or to provide a unifying diagnosis for multiple congenital anomalies.
These diagnostic services are covered when criteria 1-4 below are met:
  • Fluorescence in situ hybridization (FISH)
  • Imprinting center studies
  • Methylation studies
  • Mitochondrial genome sequencing
  • Uniparental disomy analysis
  • Whole exome sequencing/Trio whole exome sequencing
  1. The member to be tested has documented features, characteristics, or symptoms consistent with a neurodevelopmental disorder, epilepsy or seizure disorder, and/or multiple congenital anomalies of probable genetic etiology.
  2. The test is intended for identification of a neurodevelopmental disorder or epilepsy or seizure disorder or to identify a unifying diagnosis for multiple congenital anomalies that has not been successfully identified using single gene analysis and/or CGH.
  3. The test has been ordered by a board-certified medical geneticist or advanced practice nurse in genetics.
  4. The member has received genetic counseling with a board-certified genetic counselor or medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.
These services are covered when used for parental follow-up testing and criteria 1-4 below are met:
  • Comparative genomic hybridization (CGH) (e.g., karyotype, chromosomal microarray analysis [CMA])
  • Fluorescence in situ hybridization (FISH)
  • Single-gene analysis
  • Methylation studies
  • Uniparental disomy analysis
  1. The member to be tested has a child with documented features, characteristics, or symptoms consistent with a neurodevelopmental disorder, epilepsy or seizure disorder, and/or multiple congenital anomalies.
  2. Previous testing of the affected child has confirmed a genetic etiology.
  3. The test is ordered by a board-certified medical geneticist or advanced-practice nurse in genetics and is expected to directly impact management of a neurodevelopmental disorder or epilepsy or seizure disorder or to provide a unifying diagnosis for multiple congenital anomalies.
  4. Each individual to be tested has received genetic counseling with a board-certified genetic counselor or medical geneticist who is not affiliated with the commercial testing laboratory, if applicable.

Indications that are not covered

  1. Genetic testing for neurodevelopmental disorders, epilepsy and seizure disorders, and multiple congenital anomalies is not covered and is considered not medically necessary when test results will not directly impact the treatment or management of a condition or provide a unifying diagnosis for a previously unidentified condition because the testing is not expected to restore or maintain the member’s health, prevent deterioration of the member’s condition, nor prevent the reasonably likely onset of a health problem or detect an incipient problem.
  2. Repeat testing using an identical method of analysis is not covered and is considered not medically necessary because it is not considered an appropriate frequency of care.
  3. Multiple-gene panels which include genes not associated with the specific condition, features, characteristics, or symptoms under evaluation or including genes associated with conditions within the member’s differential diagnoses are not covered and are considered not medically necessary because they are not considered an appropriate type of service for the member’s condition.
  4. Genetic testing for acquired neurodevelopmental disorders (those of non-genetic etiology, such as those caused by identified environmental factors) is not covered and is considered not medically necessary.
  5. The following services are not covered and are considered experimental and investigational because reliable evidence does not permit conclusions concerning safety, effectiveness, or effect on health outcomes:
  • Genetic testing for isolated attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD)
  • Genetic testing for isolated short stature or growth retardation
  • Genetic testing for learning disabilities
  • Whole genome sequencing and genome-wide association studies (GWAS)
  1. Testing of individuals who are not HealthPartners members is not eligible for coverage, except for parental follow-up testing and trio whole exome sequencing as described under Indications that are Covered

Definitions

Chromosome is a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes

Chromosomal microarray analysis (CMA) allows for identification of very small deletions or duplications of chromosomes

Comparative genomic hybridization (CGH) is a technique that allows the detection of losses and gains of DNA copy number across the entire genome.

Exome is the portions of a gene or genome that code information for protein synthesis

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene on the X chromosome.

Genome is the complete set of genes or genetic material present in a cell or organism

Karyotype is a laboratory technique that produces an image of an individual's chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes.

Neurodevelopmental disorder is a precise genetic or acquired biological brain disorder or condition that is responsible for childhood-onset brain dysfunction.  It may result in developmental differences manifested as cognitive dysfunction, behavioral problems, and/or motor dysfunction.

If available, codes are listed below for informational purposes only, and do not guarantee member coverage or provider reimbursement. The list may not be all-inclusive.

Codes

Description

S3870

Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or intellectual disability

0012U

Germline disorders, gene rearrangement detection by whole genome next-generation sequencing, DNA, whole blood, report of specific gene rearrangement(s)

81228

Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis)

81229

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

81243

FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; evaluation to detect abnormal (eg, expanded) alleles

81244

FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; characterization of allels (eg, expanded size and methylation status)

81302

MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; full sequence analysis

81303

MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; known familial variant

81304

MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; duplication/deletion variants

81331

SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A) (eg, Prader-Willi syndrome and/or Angelman syndrome), methylation analysis

81415

Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis

81416

Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure)

81417

Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome)

81425

Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis

81426

Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator genome (eg, parents, siblings) (List separately in addition to code for primary procedure)

81427

Genome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained genome sequence (eg, updated knowledge or unrelated condition/syndrome)

88245

Chromosome analysis for breakage syndrome; baseline Sister Chromatic Exchange (SCE), 20-25 cells

88248

Chromosome analysis for breakage syndromes; baseline breakage, score 50-100 cells, count 20 cells, 2 karyotypes (eg, for ataxia telangiectasia, Fanconi anemia, fragile X)

88261

Chromosome analysis; count 5 cells, 1 karyotype, with banding

88262

Chromosome analysis; count 15-20 cells, 2 karyotypes, with banding

88263

Chromosome analysis; count 45 cells for mosaicism, 2 karyotypes, with banding

88264

Chromosome analysis, analyze 20-25 cells

88271

Molecular cytogenetics; DNA probe, each (eg, FISH)

88272

Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for derivatives and markers)

88273

Molecular cytogenetics; chromosomal in situ hybridization, analyze 10-30 cells (eg, for microdeletions)

88274

Molecular cytogenetics; interphase in situ hybridization, analyze 25-99 cells

88275

Molecular cytogenetics; interphase in situ hybridization, analyze 100-300 cells

88280

Chromosome analysis; additional karyotypes, each study

88283

Chromosome analysis; additional specialized banding technique (eg, NOR, C-banding)

88285

Chromosome analysis; additional cells counted, each study

88289

Chromosome analysis; additional high resolution study

88291

Cytogenetics and molecular cytogenetics, interpretation and report

CPT Copyright American Medical Association. All rights reserved.  CPT is a registered trademark of the American Medical Association

Products

This information is for most, but not all, HealthPartners plans. Please read your plan documents to see if your plan has limits or will not cover some items. If there is a difference between this general information and your plan documents, your plan documents will be used to determine your coverage. These coverage criteria may not apply to Medicare Products if Medicare requires different coverage. For more information regarding Medicare coverage criteria or for a copy of a Medicare coverage policy, contact Member Services at 952-883-7979 or 1-800-233-9645.

References

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  16. ECRI Institute. (2016). Array-based comparative genomic hybridization for screening or diagnosing developmental disorders in fetuses, infants, and children. Plymouth Meeting, PA: ECRI Institute.
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  19. Hayes, Inc. (2014a). CHARGE syndrome. Philadelphia, PA: Hayes, Inc.
  20. Hayes, Inc. (2014b). Infantile Epilepsy Panel. Philadelphia, PA: Hayes, Inc.
  21. Hayes, Inc. (2014c). MitoMetPlus mitochondrial/metabolic microarray analysis. Philadelphia, PA: Hayes, Inc.
  22. Hayes, Inc. (2014d). MtSEEK mitochondrial genome sequencing with deletion detection and heteroplasmy analysis. Philadelphia, PA: Hayes, Inc.
  23. Hayes, Inc. (2014e). NucSEEK comprehensive sequence analysis of nuclear mitochondrial exome. Philadelphia, PA: Hayes, Inc.
  24. Hayes, Inc. (2014f). Oculofaciocardiodental (OFCD) syndrome (syndromic microphthalmia 2; MCOPS2). Philadelphia, PA: Hayes, Inc.
  25. Hayes, Inc. (2014g). Transcription factor 4 (TCF4) testing for Pitt-Hopkins syndrome (PTHS). Philadelphia, PA: Hayes, Inc.
  26. Hayes, Inc. (2014h). Whole exome sequencing for noncancer indications. Philadelphia, PA: Hayes, Inc.
  27. Hayes, Inc. (2014i). X-linked intellectual disability (XLID) multigene panels. Philadelphia, PA: Hayes, Inc.
  28. Hayes, Inc. (2015a). ARISk2 test. Philadelphia, PA: Hayes, Inc.
  29. Hayes, Inc. (2015b). Autism and Intellectual Disability NGS Panel (Transgenomic, Inc.). Philadelphia, PA: Hayes, Inc.
  30. Hayes, Inc. (2015c). Autism NGS Panel (Fulgent Diagnostics). Philadelphia, PA: Hayes, Inc.
  31. Hayes, Inc. (2015d). Comprehensive Epilepsy Evaluation NGS Panel. Philadelphia, PA: Hayes, Inc.
  32. Hayes, Inc. (2015e). Comprehensive Non-specific Intellectual Disability Panel. Philadelphia, PA: Hayes, Inc.
  33. Hayes, Inc. (2015f). DevACT Clinical Management Panel. Philadelphia, PA: Hayes, Inc.
  34. Hayes, Inc. (2015g). DevSEEK sequence analysis for neurodevelopmental disorders. Philadelphia, PA: Hayes, Inc.
  35. Hayes, Inc. (2015h). DNA polymerase gamma (POLG)-related disorders. Philadelphia, PA: Hayes, Inc.
  36. Hayes, Inc. (2015i). Epilepsy and seizure disorders. Philadelphia, PA: Hayes, Inc.
  37. Hayes, Inc. (2015j). EpiSEEK Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders (Courtagen Life Sciences Inc.). Philadelphia, PA: Hayes, Inc.
  38. Hayes, Inc. (2015k). Forkhead box protein G1 (FOXG1) testing in congenital variant of Rett syndrome. Philadelphia, PA: Hayes, Inc.
  39. Hayes, Inc. (2015l). Fulgent Diagnostics Epilepsy NGS Panel. Philadelphia, PA: Hayes, Inc.
  40. Hayes, Inc. (2015m). Intellectual Disability NGS Panel (Fulgent). Philadelphia, PA: Hayes, Inc.
  41. Hayes, Inc. (2015n). Kabuki syndrome. Philadelphia, PA: Hayes, Inc.
  42. Hayes, Inc. (2015o). Microcephaly NGS Panel (Fulgent). Philadelphia, PA: Hayes, Inc.
  43. Hayes, Inc. (2015p). Microcephaly Panel (GeneDx). Philadelphia, PA: Hayes, Inc.
  44. Hayes, Inc. (2015q). Microcephaly Sequencing Panel (University of Chicago Genetic Services Laboratory). Philadelphia, PA: Hayes, Inc.
  45. Hayes, Inc. (2015r). MNG Laboratories Comprehensive Intellectual Disability NextGen DNA Sequencing Panel (362 genes). Philadelphia, PA: Hayes, Inc.
  46. Hayes, Inc. (2015s). NGS Epilepsy/Seizure Panel (Greenwood Genetic Center). Philadelphia, PA: Hayes, Inc.
  47. Hayes, Inc. (2015t). Syndrome Autism Panel (Greenwood Genetic Center). Philadelphia, PA: Hayes, Inc.
  48. Hayes, Inc. (2016a) Genomic microarray analysis for intellectual disability and/or developmental delay and multiple congenital anomalies or autism spectrum disorders (various manufacturers). Philadelphia, PA: Hayes, Inc.
  49. Hayes, Inc. (2016b) Pediatric Neurology Region of Interest Trio (Claritas Genomics, Inc.). Philadelphia, PA: Hayes, Inc.
  50. Hayes, Inc. (2016c) Pontocerebellar Hypoplasia Panel (GeneDx). Philadelphia, PA: Hayes, Inc.
  51. Hayes, Inc. (2016d) Saethre-Chotzen Syndrome (TWIST) Sequencing and MLPA (Greenwood Genetic Center). Philadelphia, PA: Hayes, Inc.
  52. Hayes, Inc. (2016e) Whole exome sequencing for neurological conditions in pediatric populations. Philadelphia, PA: Hayes, Inc.
  53. Hayes, Inc. (2016f) Whole genome sequencing (WGS) in neonatal and pediatric patients. Philadelphia, PA: Hayes, Inc.
  54. Hayes, Inc. (2016g). FirstStepDx PLUS (Lineagen Inc.). Philadelphia, PA: Hayes, Inc.
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  57. Korff, C. M. (2016b). Juvenile Myoclonic Epilepsy. In: D. R. Nordli, Jr. & A. F. Eichler (Eds.). UpToDate. Waltham, MA: UpToDate.
  58. Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero-Rivera, F., . . . Nelson, S. F. (2014). Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA, 312, 1880-1887.
  59. Mercimek-Mahmutoglu, S., Patel, J., Cordeiro, D., Hewson, S., Callen, D., Donner, E. J., . . . Snead, O. C. (2015). Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia, 56, 707-716.
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  62. Millichap, J. J., & Millichap, J. G. (2016). Clinical features and evaluation of febrile seizures. In: D. R. Nordli, Jr. & A. F. Eichler (Eds.). UpToDate. Waltham, MA: UpToDate.
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  64. Ockeloen, C. W., Simpson, J., Urguhart, J., Davies, J., Bowden, M., Patrick, K., . . . Clayton-Smith, J. (2014). Velopharyngeal insufficiency: High detection rate of genetic abnormalities if associated with additional features. Archives of Disease in Childhood, 99, 52-57.
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  67. Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., . . . DiMauro, S. (2015). Diagnosis and management of mitochondrial disease: A consensus statement from the Mitochondrial Medicine Society. Genetics in Medicine, 17, 689-701.
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  87. Wright, C. F., Fitzgerald, T. W., Jones, W. D., Clayton, S., McRae, J. F., van Kogelenberg, M., . . . Firth, H. V. (2015). Genetic diagnosis of developmental disorders in the DDD study: A scalable analysis of genome-wide research data. Lancet, 385, 1305-1314.
  88. Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., . . . Eng, C. M. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA, 312, 1870-1879.

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Policy activity

  • 03/08/2016 - Date of origin
  • 05/01/2017 - Effective date
Review date
  • 02/2017
Revision date
  • 02/01/2017

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