ModifiedColorado Rocky Mountain Health PlansPolicy CS165KY.09

Genetic Testing for Neurological Disorders (for Kentucky Only)

Customize your policy alerts

Sign up for Colorado Rocky Mountain Health Plans Policy CS165KY.09 alerts

Get alerted when Policy CS165KY.09 changes without checking for updates manually.

Monitor payer policy activity

Receive email alerts as soon as relevant payer policies are published or updated.

This policy governs coverage of multigene genetic testing for neurological disorders for Kentucky members, including targeted panels containing five or more genes, documentation requirements, applicable codes, and exclusions for comprehensive panels.

Policy Summary

PayerColorado Rocky Mountain Health Plans

PolicyGenetic Testing for Neurological Disorders (for Kentucky Only)

Policy CodePolicy CS165KY.09

Change TypeModified

Effective DateNovember 1, 2026

Next Review DateN/A

Key ActionEnsure the medical record includes legible medical-necessity documentation, including relevant history, examination findings, and pertinent test results.

SourceLink

OpenPayer is powered by Trek Health's payer performance platform. Trek continuously ingests, validates, and normalizes Transparency in Coverage data alongside payer policies and other commercial payer data to create a structured payer intelligence foundation. OpenPayer uses this foundation to deliver personalized search results, dynamically generated policy pages, and tailored policy monitoring based on each user's payers, specialties, billing codes, and areas of interest. The same intelligence powers broader payer performance workflows, including reimbursement benchmarking, contract evaluation, payer negotiations, and financial decision-making.

ModifiedColorado Rocky Mountain Health PlansPolicy CS165KY.09

Genetic Testing for Neurological Disorders (for Kentucky Only)

Customize your policy alerts

Sign up for Colorado Rocky Mountain Health Plans Policy CS165KY.09 alerts

Get alerted when Policy CS165KY.09 changes without checking for updates manually.

Monitor payer policy activity

Receive email alerts as soon as relevant payer policies are published or updated.

Policy Summary

PayerColorado Rocky Mountain Health Plans

PolicyGenetic Testing for Neurological Disorders (for Kentucky Only)

Policy CodePolicy CS165KY.09

Change TypeModified

Effective DateNovember 1, 2026

Next Review DateN/A

Key ActionEnsure the medical record includes legible medical-necessity documentation, including relevant history, examination findings, and pertinent test results.

SourceLink

POLICY UPDATE CHANGES

Added instructions to refer to Kentucky Revised Statutes § 304.17A-263 for biomarker-testing medical-necessity and clinical-coverage criteria.

Replaced “multi-gene Targeted Panel testing (five or more genes)” with “Targeted Panel testing of five or more genes.”

Removed the definitions of Whole Exome Sequencing and Whole Genome Sequencing.

Removed references to the policies for Chromosome Microarray Testing for Non-Oncology Conditions and Genetic Testing for Cardiac Disease from the related-policies section.

Updated the Description of Services, Clinical Evidence, and References sections to reflect current information.

KentuckyApplicable state

5+ genesMinimum panel size

5Qualifying disorder categories

4Procedure codes listed

ComprehensiveUnproven panel type

Coverage Criteria

Targeted Panel Testing

Targeted Panel testing of five or more genes for neurological disorders is proven and medically necessary when ALL of the following criteria are met:

ALL of the following

The individual has signs or symptoms of a heritable neurological disorder, and the results are expected to directly impact medical management of that disorder.
The test is ordered by, or performed in consultation with, a medical geneticist, developmental pediatrician, or adult or pediatric neuromuscular or neurogenetics specialist.
The test is intended to establish a genetic cause for ONE of the following:
- Congenital myopathy or metabolic myopathy.
- Ataxia.
- Peripheral neuropathy.
- Hereditary spastic paraplegia.
- Muscular dystrophy.

Comprehensive Panel Testing

ALL of the following

The test is a comprehensive panel intended to evaluate multiple genes associated with multiple categories of clinically distinct neurological disorders.
The test is unproven and not medically necessary due to insufficient evidence of efficacy.

Kentucky-Specific Biomarker-Testing Criteria

For Kentucky members, apply the Kentucky-specific biomarker-testing medical-necessity criteria first. When medical necessity cannot be determined using those criteria, apply the non-State-specific criteria in this section.

ALL of the following

Biomarker testing is intended for the diagnosis, treatment, appropriate management, or ongoing monitoring of the individual's disease or condition to guide treatment decisions.
The biomarker test is supported by medical and scientific evidence, including peer-reviewed literature, clinical practice guidelines, or other accepted standards of medical practice.
The results of the biomarker testing are expected to inform or guide treatment decisions for the individual's disease or condition.

Coverage of comprehensive neurological panels is subject to the medical-necessity criteria described above. Targeted panel testing may be covered when all applicable criteria are satisfied; comprehensive panels evaluating multiple genes across clinically distinct neurological disorders are not medically necessary.

FDA approval or clearance alone is not a basis for coverage. Coverage also requires that the applicable medical-necessity and coverage criteria in this policy are met.

Laboratories that perform genetic tests are regulated under the Clinical Laboratory Improvement Amendments Act of 1988. FDA resources regarding cleared or approved nucleic acid-based tests and platforms are informational and do not establish coverage.

Comprehensive panels spanning multiple clinically distinct neurological disorders are excluded because there is insufficient evidence that testing all of the associated genes provides clinically meaningful benefit or improves outcomes beyond appropriately selected targeted testing.

Covered Neurological Indications

Heritable Neurological Disorder Signs or Symptoms

Coverage applies to targeted panels containing five or more genes when all of the following are met:

Heritable neurological disorder indications

Clinical presentation and management impact: The individual has signs or symptoms of a heritable neurological disorder, and the targeted panel result is expected to directly impact medical management.
Qualified ordering clinician: The test is ordered by, or performed in consultation with, a medical geneticist, developmental pediatrician, or adult or pediatric neuromuscular or neurogenetics specialist.
Genetic cause to be established
- Congenital myopathy or metabolic myopathy.

Eligibility Requirements and Evidence

Eligibility should be supported by a clinically consistent presentation, including relevant family history and inheritance pattern when available. For hereditary ataxia, diagnostic yield was higher in phenotype-specific cohorts and in cohorts with presumed autosomal-recessive inheritance or parental consanguinity; testing plans should also account for the fact that NGS does not detect repeat expansions. For hereditary neuropathy, testing selection should reflect the clinical phenotype, inheritance pattern, and electrodiagnostic findings.

For suspected muscular dystrophy or congenital muscular dystrophy, eligibility is supported when the clinical phenotype, inheritance pattern, associated manifestations, electrodiagnostic findings, or biopsy features suggest a genetic etiology. If initial genetic testing, muscle biopsy, and dried blood spot testing for Pompe disease are nondiagnostic, genetic consultation or broader sequencing may be considered.

For suspected hereditary neuropathy, testing should be selected according to the phenotype and should initially focus on common abnormalities such as CMT1A duplication/deletion and GJB1 or MFN2 mutations. Genetic counseling, pedigree analysis, and an algorithmic evaluation are supported in the molecular assessment of Charcot-Marie-Tooth disease.

The evidence supports diagnostic utility for phenotype-directed neurological genetic testing, although yield varies by disorder, cohort, and method. Reported results include a 43% median diagnostic yield for NGS-based testing in hereditary ataxia, a 36% diagnostic rate for targeted NGS after PMP22 deletion or duplication was excluded in suspected Charcot-Marie-Tooth disease, and a 57.7% yield when NGS was combined with genotyping and MLPA in a heterogeneous neuromuscular disease cohort.

Applicable Codes and Panel Parameters

Applicable CodesCPT

0216U	Neurology (inherited ataxias), genomic DNA sequence analysis of 12 common genes including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants.
0217U	Neurology (inherited ataxias), genomic DNA sequence analysis of 51 genes including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants.
81448	Hereditary peripheral neuropathies (e.g., Charcot-Marie-Tooth, spastic paraplegia), genomic sequence analysis panel, must include sequencing of at least 5 peripheral neuropathy-related genes (e.g., BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, SPTLC1).
81479	Unlisted molecular pathology procedure

Targeted neurological disorder panel size

Minimum panel sizeFive or more genes

Policy scopeMultigene genetic test panels for neurological disorders

Covered panel typeTargeted Panel testing

Peripheral neuropathy panel gene count

Minimum gene countAt least 5 peripheral neuropathy-related genes

Applicable procedure code81448

Examples of qualifying genes

Provider Documentation and Ordering Actions

Documentation Required

Medical Necessity Records Required

Maintain legible medical-record documentation that fully supports medical necessity for the requested genetic testing. Include the relevant medical history, physical examination, and pertinent diagnostic-test or procedure results; retain the documentation in the patient’s medical record and make it available upon request.

Denial Risk

Comprehensive Panels May Be Denied

Do not request broad comprehensive panels that evaluate multiple genes across multiple clinically distinct neurological-disorder categories. These panels are considered unproven and not medically necessary because of insufficient evidence of efficacy.

Unsupported block type: denial_risk

Policy Background

This policy addresses multigene testing for heritable neurological disorders, including neuromuscular, neurodegenerative, and other disorders affecting the brain, spine, or peripheral nerves. Examples include muscular dystrophies, hereditary ataxias, Charcot-Marie-Tooth disease, hereditary neuropathies, hereditary spastic paraplegia, and certain inborn errors of metabolism. The policy distinguishes phenotype-directed targeted panels from broad comprehensive panels because the available evidence more closely links targeted testing with the individual's clinical presentation.

Key Definitions

Ataxia

DefinitionA condition of the nervous system that causes loss of control of muscle movement and coordination.

OccurrenceAtaxia can be a symptom of another condition or can happen on its own.

Clinical system affectedThe nervous system, with impaired muscle movement and coordination.

Comprehensive Panel

DefinitionAn assay that simultaneously tests more than one gene.

Conditions evaluatedGenes associated with a variety of conditions, symptoms, or nonoverlapping clinical presentations.

Testing scope

Noncovered Services and Exclusions

Not covered: Comprehensive panels that evaluate multiple genes associated with multiple categories of clinically distinct neurological disorders. These tests are considered unproven and not medically necessary because evidence of efficacy is insufficient.

Not covered: A genetic test is not covered solely because it has received FDA approval or clearance. FDA status alone does not establish medical necessity or coverage.

Not covered: Comprehensive neurological panels spanning multiple clinically distinct disorder categories, and genetic tests supported only by FDA approval or clearance. Coverage requires an applicable clinical indication and satisfaction of the policy's medical-necessity criteria; FDA approval alone is insufficient.

Policy Summary

PayerColorado Rocky Mountain Health Plans

PolicyGenetic Testing for Neurological Disorders (for Kentucky Only)

Policy CodePolicy CS165KY.09

Change TypeModified

Effective DateNovember 1, 2026

Next Review DateN/A

Key ActionEnsure the medical record includes legible medical-necessity documentation, including relevant history, examination findings, and pertinent test results.

SourceLink

On This Page

Peripheral neuropathy.

Hereditary spastic paraplegia.

Hereditary Neuropathy Testing Selection

When selecting genetic testing for hereditary neuropathy, use the clinical presentation to guide the initial evaluation:

Phenotype-guided hereditary neuropathy testing: Initial genetic testing is guided by the clinical phenotype, inheritance pattern, and electrodiagnostic features and focuses on common abnormalities, including CMT1A duplication or deletion and mutations in GJB1 or MFN2.

Cryptogenic Polyneuropathy With Hereditary Neuropathy Phenotype

Genetic testing may be considered when both of the following apply:

Cryptogenic polyneuropathy

The individual has cryptogenic polyneuropathy.
The individual has a hereditary neuropathy phenotype.
Genetic testing may be considered; level C recommendation.

Neuromuscular Disease Genetic Testing

Genetic testing is supported for neuromuscular disease when used as part of diagnosis and clinical management:

Neuromuscular disease genetic testing: Genetic testing is used as a component of diagnosing neuromuscular disease and may support clinical management, including reduced time to diagnosis, avoidance of unnecessary testing, improved surveillance and monitoring, family testing and family planning, and access to research and clinical trials.

The AANEM generally endorses genetic testing as a component of neuromuscular disease diagnosis but does not endorse a specific test or testing algorithm.

BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, and SPTLC1

Note

Counseling for Suspected Charcot-Marie-Tooth Disease

For suspected Charcot-Marie-Tooth disease, use an algorithmic molecular evaluation and provide or arrange genetic counseling. Consider pedigree analysis and additional testing when clinically appropriate, recognizing that targeted NGS may identify only a portion of pathogenic variants after PMP22 deletion or duplication has been evaluated.

Note

Discuss Genetic Diagnosis and Counseling

Use genetic diagnosis to support more accurate prognosis, surveillance, and monitoring, and discuss its implications with the patient and family. Genetic counseling should address family testing and family-planning considerations, as well as potential access to clinical trials.

Note

Use a Qualified Ordering Clinician

Targeted-panel testing must be ordered by, or performed in consultation with, a qualified clinician: a medical geneticist, developmental pediatrician, or adult or pediatric neuromuscular or neurogenetics specialist.

Note

Refer Children to a Pediatric Neuromuscular Specialist

For children with suspected congenital muscular dystrophy, consult a pediatric neuromuscular specialist for diagnosis and management.

Note

Let the Clinical Presentation Guide Test Selection

Select genetic testing based on the patient’s clinical phenotype, inheritance pattern, associated manifestations, and electrodiagnostic features. Begin with the most appropriate phenotype-driven or targeted approach, including common abnormalities when evaluating suspected hereditary neuropathy.

Multiple genes are evaluated across varied clinical conditions or presentations.

Congenital Myopathy

DefinitionAn abnormality affecting muscle development, typically manifesting at birth or during early infancy.

Typical clinical presentationMuscle weakness, hypotonia, and respiratory distress may occur.

ExamplesCentral core disease, multiminicore disease, centronuclear myopathy, and nemaline myopathy.

Metabolic Myopathy

DefinitionAn abnormality resulting from certain inborn errors of metabolism.

Examples of underlying disordersGlycogen storage diseases and fatty acid metabolism defects.

Typical clinical presentationMuscle cramps, exercise intolerance, and progressive weakness in the trunk and extremities may occur.

Targeted Panel

DefinitionA curated assay that simultaneously tests more than one gene associated with a condition.

Genetic condition focusIt may include multiple genes associated with one specific genetic condition.

Symptom-based focusIt may include multiple genes associated with a symptom or nonspecific clinical presentation.