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Coverage criteria policies

Genetic Testing for Neurodegenerative and Neuromuscular Disorders

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 neurodegenerative and neuromuscular disorders.

For genetic testing for neurodevelopmental disorders or epilepsy, see the Genetic Testing for Neurodevelopmental Disorders, Epilepsy and Seizure Disorders, and Multiple Congenital Anomalies coverage policy.

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

Coverage

Indications that are covered

Single-gene and multiple-gene analysis for these conditions is covered when criteria 1-4 listed below are met:

    · Early-onset Alzheimer disease (see definition below)

    · Hereditary amyloidosis

    · Huntington disease

    · Inherited prion disease (see definition below)

    · Myoclonus-dystonia

    · Myotonic dystrophy

    · Parkinson disease

    · Spinobulbar muscular atrophy (Kennedy disease)

    · Spinocerebellar ataxia

  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of one of the above specific, clinically-suspected, neurodegenerative or neuromuscular disorders or to determine predisposition to a specific, inheritable, neurodegenerative or neuromuscular disorder.
  3. 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.
  4. The test has been recommended for one of the following indications:
    1. The member is 18 years of age or older and has a first- or second-degree blood relative diagnosed with the condition under evaluation.
    2. The member has a personal history consistent with the condition under evaluation.

Single-gene and multiple-gene analysis, comparative genomic hybridization (CGH), and mitochondrial genetic analysis for these conditions is covered when criteria 1-4 listed below are met:

    · Arthrogryposis multiplex congenita

    · Benign hereditary chorea

    · Charcot-Marie-Tooth disease

    · Congenital axonal neuropathy

    · Congenital disorders of creatine metabolism (see definition below)

    · Congenital myasthenic syndromes (see definition below)

    · Congenital myopathy (see definition below)

    · Hereditary neuropathy with liability to pressure palsy (HNPP)

    · Hereditary spastic paraplegia

    · Episodic ataxia

    · Malignant hyperthermia

    · Mitochondrial myopathy (see definition below)

    · Muscular dystrophy (see definition below)

    · Myophosphorylase deficiency (McArdle disease)

    · Neurodegeneration with brain iron accumulation

    · Primary acetylcholine receptor deficiency

    · Spinal muscular atrophy

  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of one of the above specific, clinically-suspected, neurodegenerative or neuromuscular disorders or to determine predisposition to a specific, inheritable, neurodegenerative or neuromuscular disorder.
  3. 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.
  4. The test has been recommended for one of the following indications:
    1. The member has a first- or second-degree blood relative diagnosed with the condition under evaluation.
    2. The member has a personal history consistent with the condition under evaluation.
CADASIL
Single-gene and multiple-gene analysis for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of CADASIL or to determine predisposition to CADASIL.
  3. 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.
  4. The test has been recommended for one of the following indications:
    1. The member is 18 years of age or older and has a first- or second-degree blood relative diagnosed with CADASIL or a first- or second-degree blood relative with stroke or dementia suggestive of CADASIL.
    2. The member has a personal history consistent with CADASIL, including a brain MRI with findings suspicious for CADASIL.
Familial Amyotrophic Lateral Sclerosis
Single-gene analysis for familial amyotrophic lateral sclerosis is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of familial amyotrophic lateral sclerosis.
  3. 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.
  4. The member has a personal history consistent with familial amyotrophic lateral sclerosis.
Multiple-gene analysis for familial amyotrophic lateral sclerosis is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of familial amyotrophic lateral sclerosis.
  3. 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.
  4. The member has a personal history consistent with familial amyotrophic lateral sclerosis and C9orf72 analysis was negative.
Fragile X-associated Tremor/Ataxia Syndrome
Single-gene and multiple-gene analysis for fragile X-associated tremor/ataxia syndrome is covered when criteria 1-5 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of fragile X-associated tremor/ataxia syndrome.
  3. 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.
  4. The member has a personal history of late-onset intention tremor and cerebellar ataxia.
  5. The member has a first- or second-degree relative with at least one of the following:
  • Fragile X syndrome
  • Unexplained intellectual disability
  • Unexplained movement disorder
Friedreich Ataxia
Single-gene and multiple-gene analysis for Friedreich ataxia is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of Friedreich ataxia or to determine predisposition to Friedreich ataxia.
  3. 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.
  4. The test has been recommended for one of the following indications:
    1. The member is 18 years of age or older and has a first- or second-degree blood relative diagnosed with Friedreich ataxia.
    2. The member has a personal history consistent with Friedreich ataxia, including progressive cerebellar ataxia.
Frontotemporal Dementia
Single-gene analysis for frontotemporal dementia is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of frontotemporal dementia.
  3. 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.
  4. The member has a personal history consistent with frontotemporal dementia.
Single-gene analysis for frontotemporal dementia is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of frontotemporal dementia.
  3. 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.
  4. The member has a personal history consistent with frontotemporal dementia and C9orf72 analysis was negative.
Lysosomal Acid Alpha-glucosidase Deficiency
Single-gene and multiple-gene analysis for lysosomal acid alpha-glucosidase deficiency is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of lysosomal acid alpha-glucosidase deficiency.
  3. 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.
  4. The test has been recommended for one of the following indications:
    1. The member has a first- or second-degree blood relative diagnosed with lysosomal acid alpha-glucosidase deficiency.
    2. The member has a personal history consistent with lysosomal acid alpha-glucosidase deficiency, including reduced acid alpha-glucosidase (GAA) activity in a dried blood spot.
Primary Dystonia
Single-gene and multiple-gene analysis for primary dystonia is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of primary dystonia.
  3. 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.
  4. The test has been recommended for one of the following indications:
    1. The member has a personal history consistent with primary dystonia at any age of onset and a first- or second-degree blood relative diagnosed with early-onset primary dystonia (before age 30 years).
    2. The member has a personal history consistent with early-onset primary dystonia.
Primary Systemic Carnitine Deficiency
Single-gene and multiple-gene analysis for primary systemic carnitine deficiency is covered when criteria 1-4 listed below are met:
  1. The test is ordered by a board-certified neurologist or geneticist; a licensed, certified genetic counselor; or an advanced-practice nurse neurology or genetics.
  2. The test is expected to directly impact management of primary systemic carnitine deficiency.
  3. 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.
  4. The test has been recommended for one of the following indications:
    1. The member has a first- or second-degree blood relative diagnosed with primary systemic carnitine deficiency.
    2. The member has a personal history consistent with primary systemic carnitine deficiency, including a low carnitine level identified by newborn screening or a low serum carnitine level identified through another method.
Whole Exome Sequencing/Trio Whole Exome Sequencing
Whole exome sequencing/trio whole exome sequencing for neurodegenerative and neuromuscular disorders is covered when criteria 1-4 listed below are met:
  1. The member to be tested has documented features, characteristics, or symptoms consistent with a neurodegenerative or neuromuscular disorder of probable genetic etiology.
  2. The test is intended for identification of a neurodegenerative or neuromuscular disorder that has not been successfully identified using single- or multiple-gene analysis, CGH, and/or mitochondrial genetic analysis.
  3. The test has been ordered by a board-certified geneticist; a licensed, certified genetic counselor; or an 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.

Genetic testing for neurodegenerative or neuromuscular disorders other than those listed above is subject to a review for medical necessity, based on current clinical literature and expert recommendations, unless listed below as an indication that is not covered.

Indications that are not covered

  1. Genetic testing for neurodegenerative or neuromuscular disorders is not covered and is considered not medically necessary when test results will not directly impact the treatment or management of a 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 of a unique analyte using the 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 that include genes not associated with the specific condition under evaluation 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. Direct-to-consumer testing is not covered and is considered not medically necessary because it is not within the practice parameters of the general medical community.
  5. Predictive genetic testing for asymptomatic members under 18 years of age, except as described above under Indications that are covered, is considered not medically necessary because it is not within the clinically accepted practice parameters of the general medical community.
  6. The following services are considered experimental/investigational because reliable evidence does not permit conclusions concerning safety, effectiveness, or effect on health outcomes:
  • APOE gene analysis for any indication
  • Evaluation of biofluid microRNA for any indication
  • Evaluation of telomere length for any indication
  • Mitochondrial genetic analysis for Alzheimer disease
  1. Single-gene and multiple-gene assays for the following conditions are considered experimental/investigational, because reliable evidence does not permit conclusions concerning safety, effectiveness, or effect on health outcomes:
  • Cerebral amyloid angiopathy
  • Corticobasal degeneration
  • Dementia with Lewy bodies
  • Essential tremor
  • Hereditary sensory and autonomic neuropathies
  • Hypokalemic periodic paralysis
  • Late-onset Alzheimer disease
  • Myotonia congenita
  • Progressive supranuclear palsy

Definitions

Congenital disorders of creatine metabolism, for purposes of this coverage policy, are arginine:glycine amidinotransferase (AGAT) deficiency, guanidinoacetate methyltransferase (GAMT) deficiency, and creatine transporter (CT) deficiency.

Congenital myasthenic syndromes, for purposes of this coverage policy, are primary acetylcholine receptor deficiency, acetylcholinesterase deficiency, fast channel syndrome, and slow channel syndrome.

Congenital myopathies, for purposes of this coverage policy, are nemaline myopathy, central core disease, multiminicore disease, centronuclear (myotubular) myopathies, and congenital fiber type disproportion.

Early-onset Alzheimer disease is the onset of symptoms of Alzheimer disease before 65 years of age

First-degree relative is an individual’s parent, sibling, or child

Inherited prion diseases, for purposes of this coverage policy, are familial Cruetzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia

Late-onset Alzheimer disease is the onset of symptoms of Alzheimer disease after 65 years of age

Mitochondrial myopathies, for purposes of this coverage policy, are Leigh syndrome; neuropathy, ataxia, and retinitis pigmentosa (NARP); chronic progressive external ophthalmoplegia (CPEO); Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS); mitochondrial neurogastrointestinal encephalopathy (MNGIE); and coenzyme Q10 deficiency.

Muscular dystrophies, for purposes of this coverage policy, are Duchenne muscular dystrophy, Becker muscular dystrophy, congenital muscular dystrophy, dysferlin myopathy, limb-girdle muscular dystrophy, muscle-eye-brain disease, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy.

Second-degree relative is an individual’s grandparent, grandchild, aunt, uncle, nephew, niece, or half-sibling.

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.

The services associated with these codes require prior authorization:

Codes

Description

81161

DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed

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 alleles (eg, expanded size and methylation status)

81324

PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis

81325

PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; full sequence analysis

81326

PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; known familial variant

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)

81440

Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP

81448

Hereditary peripheral neuropathies (eg, Charcot-Marie-Tooth, spastic paraplegia), genomic sequence analysis panel, must include sequencing of at least 5 peripheral neuropathy-related genes (eg, BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, SPTLC1)

81460

Whole mitochondrial genome (eg, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS], myoclonic epilepsy with ragged-red fibers [MERFF], neuropathy, ataxia, and retinitis pigmentosa [NARP], Leber hereditary optic neuropathy [LHON]), genomic sequence, must include sequence analysis of entire mitochondrial genome with heteroplasmy detection

81465

Whole mitochondrial genome large deletion analysis panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed

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

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

S3800

Genetic testing for amyotrophic lateral sclerosis (ALS)

S3852

DNA analysis for APOE epsilon 4 allele for susceptibility to Alzheimer's disease

S3853

Genetic testing for myotonic muscular dystrophy

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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  43. Hayes, Inc. (2014f). nucSEEK comprehensive sequence analysis of nuclear mitochondrial exome. Philadelphia, PA: Hayes Inc.
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Policy activity

  • 11/01/2016 - Date of origin
  • 11/01/2017 - Effective date
Review date
  • 08/2017
Revision date
  • 08/08/2017

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