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Coverage criteria policies

Genetic Testing: Neurological, Developmental, and Sensory Disorders and 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 neurological, developmental, and sensory disorders and congenital anomalies, except for the following services:

  • Cytogenetic and/or cytogenomic studies when associated with procedure codes from the list below (under Codes)
  • FMR1 gene analysis when associated with procedure codes from the list below (under Codes)
  • GJB2 and/or GJB6 gene analysis for sensorineural hearing loss when associated with procedure and primary diagnosis codes from the list below (under Codes)
  • Single-gene analysis and targeted multiple-gene analysis for diagnostic and/or confirmatory testing of a neonate following concerning newborn screening assay results for any of the disorders listed in the table below (in Section 8)

Newborn screening, including the use of genetic screening assays as a component of the standard newborn screening panel process, is outside the scope of this coverage policy. Any state mandates for genetic testing take precedence over this coverage policy.

For genetic testing related to cancer susceptibility, see the Genetic Testing for Cancer Predisposition coverage policy.

For genetic testing related to connective tissue, skeletal, and integumentary disorders, see the Genetic Testing for Connective Tissue, Skeletal, and Integumentary disorders coverage policy.

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

Genetic testing for neurological, developmental, sensory disorders, and/or congenital anomalies other than as described below is subject to a review for medical necessity, based on current clinical literature and expert recommendations, unless listed as an indication that is not covered.

Coverage

Indications that are covered

Section 1: Cytogenetic and Cytogenomic Studies

Cytogenetic and cytogenomic studies (e.g., array comparative genomic hybridization [CGH], fluorescence in situ hybridization [FISH], karyotyping/chromosomal analysis/chromosomal banding) for neurological, developmental, and sensory disorders and congenital anomalies, including sex chromosome abnormalities and/or delayed puberty, are covered.

Section 2: Genetic Testing for Developmental Disorders and Congenital Anomalies

Single-gene analysis of the FMR1 gene for fragile X syndrome is covered.

Single-gene analysis (other than the FMR1 gene) for these conditions is covered when criteria 1-3 listed below are met:

    · Autism spectrum disorder (ASD)

    · Epilepsy/seizure disorder

    · Global developmental delay

    · Intellectual disability

    · Multiple congenital anomalies

  1. The test is ordered by a board-certified medical geneticist, developmental pediatrician, or neurologist; a licensed genetic counselor; or an advanced practice nurse in one of these specialties.
  2. The test is expected to directly impact management of one of the disorders listed above or to provide a unifying diagnosis for multiple congenital anomalies.
  3. The test has been recommended for one of the following indications :
    1. The member has a personal history consistent with the condition under evaluation.
    2. The member has a first- or second-degree blood relative diagnosed with the condition under evaluation and a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics certifies that the member is at risk for this condition.

Multiple-gene analysis, including mitochondrial genetic analysis, for these conditions is covered when criteria 1-4 below are met:

    · Autism spectrum disorder (ASD)

    · Epilepsy/seizure disorder

    · Global developmental delay

    · Intellectual disability

    · Multiple congenital anomalies

  1. The test is ordered by a board-certified medical geneticist, developmental pediatrician; or neurologist; a licensed genetic counselor; or an advanced practice nurse in one of these specialties.
  2. The test is expected to directly impact management of one of the disorders listed above or to provide a unifying diagnosis for multiple congenital anomalies.
  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 the condition under evaluation.
    2. The member has a first- or second-degree blood relative diagnosed with the condition under evaluation and a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics certifies that the member is at risk for this condition.

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

    · Classic congenital adrenal hyperplasia (CAH) (21-hydroxylase deficiency)

    · Isolated gonadotropin-releasing hormone (GnRH) deficiency (including Kallman syndrome)

  1. The test is ordered by a board-certified endocrinologist or medical geneticist; a licensed genetic counselor; or an advanced practice registered nurse in one of these specialties.
  2. The test is expected to directly impact management of one of the specific disorders listed above.
  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 the condition under evaluation, and the following additional criteria are met:
      1. Classic CAH: The member has received equivocal results following a standard high-dose (250 mcg) cosyntropin test and adrenocortical profile
      2. GnRH deficiency: Previous testing has included testosterone (in males) or estradiol (in females), luteinizing hormone (LH), and follicle-stimulating hormone (FSH) serum concentrations and magnetic resonance imaging (MRI) of the hypothalamus and pituitary region.
    2. The member has a first- or second-degree blood relative diagnosed with the condition under evaluation and a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics certifies that the member is at risk for this condition.
Section 3: Genetic Testing for Sensory Disorders:

Single-gene analysis of the GJB2 and/or GJB6 gene(s) for sensorineural hearing loss is covered.

Single-gene analysis (other than the GJB2 and/or GJB6 genes) for these conditions is covered when criteria 1-4 listed below are met:

    · Alport syndrome

    · Leber hereditary optic neuropathy (LHON)

    · Ocular albinism

    · Oculocutaneous albinism

    · Retinitis pigmentosa (including Leber congenital amaurosis and Usher syndrome)

    · Sensorineural hearing loss

  1. The test is ordered by a board-certified ophthalmologist, otolaryngologist, nephrologist, medical geneticist, or neurologist; a licensed genetic counselor; or an advanced practice nurse in one of these specialties.
  2. The test is expected to directly impact management of one of the specific disorders listed above.
  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 the condition under evaluation.
    2. The member has a first- or second-degree blood relative diagnosed with the condition under evaluation and a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics certifies that the member is at risk for this condition.

Multiple-gene analysis, including mitochondrial genetic analysis, for these conditions is covered when criteria 1-4 below are met:

    · Alport syndrome

    · Leber hereditary optic neuropathy (LHON)

    · Ocular albinism

    · Oculocutaneous albinism

    · Retinitis pigmentosa (Leber congenital amaurosis and Usher syndrome)

    · Sensorineural hearing loss

  1. The test is ordered by a board-certified ophthalmologist, otolaryngologist, nephrologist, medical geneticist, or neurologist; a licensed genetic counselor; or an advanced practice nurse in one of these specialties.
  2. The test is expected to directly impact management of one of the specific disorders listed above.
  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 the condition under evaluation. If the condition under evaluation is sensorineural hearing loss, one of the following criteria must also be met:
      1. The member has received a previous negative single-gene analysis result.
      2. The ordering provider intends to use multiple-gene analysis as a reflex test following analysis of the GJB2 and/or GJB6 genes
    2. The member has a first- or second-degree blood relative diagnosed with the condition under evaluation and a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics certifies that the member is at risk for this condition.
Section 4: Genetic Testing for Neurological Disorders

Single-gene analysis of the FMR1 gene for fragile X-associated tremor/ataxia syndrome (FXTAS) is covered.

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

    · Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

    · Early-onset Alzheimer disease (see definition below)

    · Familial amyotrophic lateral sclerosis (FALS)

    · Friedreich ataxia

    · Frontotemporal dementia

    · Hereditary amyloidosis

    · Huntington disease

    · Inherited prion disease (see definition below)

    · Myoclonus-dystonia

    · Myotonic dystrophy

    · Parkinson disease

    · Primary dystonia

    · Spinobulbar muscular atrophy (Kennedy disease)

    · Spinocerebellar ataxia

  1. The test is ordered by a board-certified neurologist or medical geneticist; a licensed genetic counselor; or an advanced practice registered nurse in neurology or genetics.
  2. The test is expected to directly impact management of one of the specific disorders listed above.
  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 the condition under evaluation, and the following additional criteria are met, if any are applicable to the specific condition under evaluation:
      1. CADASIL: The member’s Brain MRI findings are suspicious for CADASIL
      2. FALS: For multiple-gene analysis, the member has received a previous negative C9orf72 analysis result.
      3. Friedreich ataxia: The member has progressive cerebellar ataxia
      4. Frontotemporal dementia: For multiple-gene analysis, the member has received a previous negative C9orf72 analysis result.
      5. Primary dystonia: For members with onset of primary dystonia after age 30 years, the member has a first- or second-degree blood relative diagnosed with early-onset primary dystonia (before age 30 years).
    2. The member is 18 years of age or older; has a first- or second-degree blood relative diagnosed with the condition under evaluation; and a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics certifies that the member is at risk for this condition.

Single-gene analysis and multiple-gene analysis, including 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

    · Familial dysautonomia (Riley-Day syndrome)

    · Malignant hyperthermia

    · Mitochondrial myopathy (see definition below)

    · Muscular dystrophy (see definition below)

    · Myophosphorylase deficiency (McArdle disease)

    · Neurodegeneration with brain iron accumulation (NBIA)

    · Spinal muscular atrophy (SMA)

  1. The test is ordered by a board-certified neurologist, or medical geneticist; a licensed genetic counselor; or an advanced practice registered nurse in one of these specialties.
  2. The test is expected to directly impact management of one of the specific disorders listed above.
  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 the condition under evaluation.
    2. The member has a first- or second-degree blood relative diagnosed with the condition under evaluation and a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics certifies that the member is at risk for this condition.
Section 5: Whole Exome Sequencing

Whole exome sequencing, including comparator exome sequence analysis, is covered when criteria 1-4 below are met:

  1. The test is ordered by a board-certified medical geneticist, licensed genetic counselor, or advanced practice registered nurse in genetics.
  2. The test is intended for identification of a neurological, developmental, or sensory disorder or to identify a unifying diagnosis for multiple congenital anomalies that has not been successfully identified through previous genetic, cytogenomic, and/or cytogenetic analysis.
  3. The member has received genetic counseling with a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics who is not affiliated with the commercial testing laboratory, if applicable.
  4. The member to be tested has documented features, characteristics, or symptoms consistent with a neurological, developmental, or sensory disorder, and/or multiple congenital anomalies of probable genetic etiology
Section 6: Other Diagnostic Services

These diagnostic services are covered when criteria 1-3 below are met:

    · Imprinting defect studies

    · DNA methylation studies

    · Uniparental disomy studies

  1. The test is ordered by a board-certified medical geneticist, licensed genetic counselor, or advanced practice registered nurse in genetics.
  2. The member has received genetic counseling with a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics who is not affiliated with the commercial testing laboratory, if applicable.
  3. The member to be tested has documented features, characteristics, or symptoms consistent with a neurological, developmental, or sensory disorder, and/or multiple congenital anomalies of probable genetic etiology
Section 7: Parental Follow-up Testing

These services are covered when used for parental follow-up testing and criteria 1-5 below are met:

    · Single-gene analysis

    · DNA methylation studies

    · Uniparental disomy studies

  1. The test is ordered by a board-certified medical geneticist, licensed genetic counselor, or advanced practice registered nurse in genetics.
  2. The test is expected to directly impact management of a neurological, developmental, or sensory disorder or to provide a unifying diagnosis for multiple congenital anomalies.
  3. Each individual to be tested has received genetic counseling with a board-certified genetic counselor, medical geneticist, or advanced practice registered nurse in genetics who is not affiliated with the commercial testing laboratory, if applicable.
  4. The member to be tested has a child with documented features, characteristics, or symptoms consistent with a neurological, developmental, or sensory disorder and/or multiple congenital anomalies.
  5. Previous testing of the affected child has confirmed a genetic etiology.
Section 8: Diagnostic and/or Confirmatory Genetic Testing after Newborn Screening

Single-gene analysis and targeted multiple-gene analysis for diagnostic and/or confirmatory testing of a neonate following positive, borderline, or abnormal newborn screening results for conditions in the table below is covered.

Diagnostic Genetic Testing after Newborn Screening

2-methyl-3-hydroxybutyric acidemia

Isovaleric acidemia

2-methylbutyryl-CoA dehydrogenase deficiency

Long-chain hydroxyacyl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Malonic acidemia

3-methylcrotonyl-CoA carboxylase deficiency

Maple syrup urine disease (branched-chain ketoaciduria)

3-methylcrotonyl-CoA hydratase deficiency (3MCC)

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

Acid alpha-glucosidase deficiency (Pompe disease, acid maltase deficiency, glycogen storage disease II)

Medium-chain keto acyl-CoA thiolase (MCKAT) deficiency

Argininemia (arginase deficiency)

Medium/short-chain hydroxyl acyl-CoA dehydrogenase deficiency

Argininosuccinate acidemia

Methylmalonic acidemia (methylmalonyl-CoA mutase deficiencies; adenosylcobalamin synthesis defects; maternal vitamin B12 deficiency)

Beta ketothiolase deficiency

Mucopolysaccharidosis type I (Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome)

Biopterin cofactor defects

Multiple CoA carboxylase (holocarboxylase synthetase) deficiency, biotinidase deficiency

Carnitine acylcarnitine translocase deficiency

Phenylketonuria

Carnitine palmitoyltransferase deficiency I and II

Primary T-cell lymphopenias, severe combined immunodeficiency (SCID)

Carnitine uptake defect (primary systemic carnitine deficiency, carnitine transporter deficiency)

Sickle beta thalassemia

Citrullinemia type I (argininosuccinate synthetase deficiency) and type II

Sickle cell disease/trait

Dienoyl-CoA reductase deficiency

Trifunctional protein (trifunctional enzyme) deficiency

Galactosemia

Tyrosinemia type I (hepatorenal tyrosinemia), type II (oculocutaneous tyrosinemia, Richner-Hanhart syndrome), and type III

Glutaric acidemia types I and II

Variant hemoglobinopathies

Hypermethioninemia

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

Hyperphenylalaninemia

X-linked adrenoleukodystrophy (X-ALD)

Isobutyryl-CoA dehydrogenase deficiency

 

Indications that are not covered

  1. Genetic testing 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. The following services are not covered and are considered not medically necessary because they are not within the practice parameters of the general medical community:
    1. Comparative analysis using short tandem repeat (STR) markers, which is considered integral to the primary procedure and ineligible for separate coverage
    2. Direct-to-consumer genetic testing
    3. Genetic testing for acquired disorders (those of non-genetic etiology, such as a condition caused by an identified environmental factor).
    4. Genetic testing which was not ordered by a licensed healthcare provider or physician (see Definitions) who has established a direct patient care relationship with the member to be tested.
    5. Genetic testing that is provided solely to satisfy data collection and analysis needs and that will not be used in direct clinical management.
    6. Predictive genetic testing for asymptomatic members under 18 years of age for conditions generally accepted to have an onset in adulthood
  3. 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.
  4. Multiple-gene panels which include genes not associated with the specific condition, features, characteristics, or symptoms under evaluation, or including genes not associated with conditions within the ordering provider’s differential diagnosis list for the affected member, are not covered and are considered not medically necessary because they are not considered an appropriate type of service for the member’s condition.
  5. The following services are considered experimental/investigational because reliable evidence does not permit conclusions concerning safety, effectiveness, or effect on health outcomes:
    1. APOE gene analysis for any indication
    2. Evaluation of biofluid microRNA for any indication
    3. Evaluation of telomere length for any indication
    4. Mitochondrial genetic analysis for Alzheimer disease
    5. Whole genome sequencing
    6. Genetic testing for the following indications:
      1. Age-related macular degeneration (ARMD)
      2. Attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD)
      3. Corticobasal degeneration
      4. Dementia with Lewy bodies
      5. Essential tremor
      6. Familial hemiplegic migraine
      7. Hereditary sensory and autonomic neuropathy (HSAN) (includes primary erythromelalgia and small fiber neuropathy), except as described above for familial dysautonomia
      8. Homocystinuria
      9. Late-onset Alzheimer disease
      10. Learning disabilities
      11. Myotonia congenita
      12. Progressive supranuclear palsy
      13. Short-chain acyl-CoA dehydrogenase deficiency (SCADD)
      14. Short stature/growth failure
      15. Speech impairment/speech delay

Definitions

Congenital anomalies are structural or functional abnormalities that occur before birth and can be identified prenatally, at birth, or later in infancy.

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.

Delayed puberty is the absence or incomplete development of secondary sexual characteristics bounded by an age at which 95 percent of children of that sex and culture have initiated sexual maturation. It is considered a form of developmental delay for purposes of this coverage policy.

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.

Global developmental delay is intellectual and adaptive impairment beginning in children <5 years old who fail to meet expected developmental milestones in several areas of intellectual functioning.

Healthcare provider is any licensed non-physician (excluding naturopathic providers).

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

Intellectual disability is a state of functioning that begins in childhood and is characterized by limitations in intelligence and adaptive skills.

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.

Newborn screening is performed shortly after birth. The conditions included in the screening panel vary from state to state according to state mandates.

Physician is a licensed medical doctor or doctor of osteopathy.

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

Sensorineural hearing loss is a disorder of the inner ear at the level of the cochlea, eighth nerve, internal auditory canal, or brain.

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.

These services do not require prior authorization when associated with genetic testing for neurological, developmental, and sensory disorders and/or congenital anomalies:

Codes

Description

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)

88130

Sex chromatin identification; Barr bodies

88140

Sex chromatin identification; peripheral blood smear, polymorphonuclear drumsticks

88182

Flow cytometry, cell cycle or DNA analysis

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)

88249

Chromosome analysis for breakage syndromes; score 100 cells, clastogen stress (eg, diepoxybutane, mitomycin C, ionizing radiation, UV radiation

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

88299

Unlisted cytogenetic study

88366

In situ hybridization (eg, FISH), per specimen; each multiplex probe stain procedure

88367

Morphometric analysis, in situ hybridization (quantitative or semi-quantitative), using computer-assisted technology, per specimen; initial single probe stain procedure

88368

Morphometric analysis, in situ hybridization (quantitative or semi-quantitative), manual, per specimen; initial single probe stain procedure

88369

Morphometric analysis, in situ hybridization (quantitative or semi-quantitative), manual, per specimen; each additional single probe stain procedure (List separately in addition to code for primary procedure)

88373

Morphometric analysis, in situ hybridization (quantitative or semi-quantitative), using computer-assisted technology, per specimen; each additional single probe stain procedure (List separately in addition to code for primary procedure)

88374

Morphometric analysis, in situ hybridization (quantitative or semi-quantitative), using computer-assisted technology, per specimen; each multiplex probe stain procedure

88377

Morphometric analysis, in situ hybridization (quantitative or semi-quantitative), manual, per specimen; each multiplex probe stain procedure

S3870

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

These services do not require prior authorization when associated with any of these primary diagnoses (prior authorization is required for all other primary diagnoses):

Codes

Description

Codes

Description

81252

GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence

H90.3

Sensorineural hearing loss, bilateral

81253

GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; known familial variants

H90.41

Sensorineural hearing loss, unilateral, right ear, with unrestricted hearing on the contralateral side;

81254

GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (eg, nonsyndromic hearing loss) gene analysis, common variants (eg, 309kb [del(GJB6-D13S1830)] and 232kb [del(GJB6-D13S1854)])

H90.42

Sensorineural hearing loss, unilateral, left ear, with unrestricted hearing on the contralateral side

S3844

DNA analysis of the connexin 26 gene (GJB2) for susceptibility to congenital, profound deafness

H90.5

Unspecified sensorineural hearing loss

   

H90.6

Mixed conductive and sensorineural hearing loss, bilateral

   

H90.71

Mixed conductive and sensorineural hearing loss, unilateral, right ear, with unrestricted hearing on the contralateral side

   

H90.72

Mixed conductive and sensorineural hearing loss, unilateral, left ear, with unrestricted hearing on the contralateral side

   

H90.8

Mixed conductive and sensorineural hearing loss, unspecified

These services require prior authorization unless associated with diagnostic and/or confirmatory genetic testing of a neonate following newborn screening (Primary diagnosis ICD-10 P09 Abnormal findings on neonatal screening):

Codes

Description

0012U

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

81161

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

81171

AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) allele

81172

AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and methylation status)

81173

AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; full gene sequence

81174

AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; known familial variant

81177

ATN1 (atrophin 1) (eg, dentatorubral-pallidoluysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81178

ATXN1 (ataxin 1) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81179

ATXN2 (ataxin 2) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81180

ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81181

ATXN7 (ataxin 7) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81182

ATXN8OS (ATXN8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81183

ATXN10 (ataxin 10) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81184

CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; evaluation to detect abnormal (eg, expanded) alleles

81185

CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; full gene sequence

81186

CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; known familial varian

81187

CNBP (CCHC-type zinc finger nucleic acid binding protein) (eg, myotonic dystrophy type 2) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81188

CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles

81189

CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; full gene sequence

81190

CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; known familial variant(s)

81200

ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)

81204

AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; characterization of alleles (eg, expanded size or methylation status)

81205

BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X)

81209

BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant

81234

DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; evaluation to detect abnormal (expanded) alleles

81239

DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; characterization of alleles (eg, expanded size)

81242

FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T)

81250

G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X)

81251

GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A)

81255

HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S)

81257

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, and Constant Spring)

81258

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; full gene sequence

81259

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; known familial variant

81260

IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P)

81269

HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants

81271

HTT (huntingtin) (eg, Huntington disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles

81274

HTT (huntingtin) (eg, Huntington disease) gene analysis; characterization of alleles (eg, expanded size)

81284

FXN (frataxin) (eg, Friedreich ataxia) gene analysis; evaluation to detect abnormal (expanded) alleles

81285

FXN (frataxin) (eg, Friedreich ataxia) gene analysis; characterization of alleles (eg, expanded size)

81286

FXN (frataxin) (eg, Friedreich ataxia) gene analysis; full gene sequence

81289

FXN (frataxin) (eg, Friedreich ataxia) gene analysis; known familial variant(s)

81290

MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb)

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

81321

PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis

81322

PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant

81323

PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant

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

81329

SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; dosage/deletion analysis (eg, carrier testing), includes SMN2 (survival of motor neuron 2, centromeric) analysis, if performed

81330

SMPD1(sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330)

81331

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

81336

SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; full gene sequence

81337

SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; known familial sequence variant(s)

81343

PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81344

TBP (TATA box binding protein) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

81361

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE)

81362

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s)

81363

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s)

81364

HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); full gene sequence

81400

MOLECULAR PATHOLOGY PROCEDURE LEVEL 1

81401

MOLECULAR PATHOLOGY PROCEDURE LEVEL 2

81402

MOLECULAR PATHOLOGY PROCEDURE LEVEL 3

81403

MOLECULAR PATHOLOGY PROCEDURE LEVEL 4

81404

MOLECULAR PATHOLOGY PROCEDURE LEVEL 5

81405

MOLECULAR PATHOLOGY PROCEDURE LEVEL 6

81406

MOLECULAR PATHOLOGY PROCEDURE LEVEL 7

81407

MOLECULAR PATHOLOGY PROCEDURE LEVEL 8

81408

MOLECULAR PATHOLOGY PROCEDURE LEVEL 9

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)

81430

Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1

81431

Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes

81434

Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A

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

81442

Noonan spectrum disorders (eg, Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan-like syndrome), genomic sequence analysis panel, must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1

81443

Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH)

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

81470

X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); genomic sequence analysis panel, must include sequencing of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2

81471

X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); duplication/deletion gene analysis, must include analysis of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2

81479

Unlisted molecular pathology procedure

81599

Unlisted multianalyte assay with algorithmic analysis

S3800

Genetic testing for amyotrophic lateral sclerosis (ALS)

S3845

Genetic testing for alpha-thalassemia

S3846

Genetic testing for hemoglobin E beta-thalassemia

S3849

Genetic testing for Niemann-Pick disease

S3850

Genetic testing for sickle cell anemia

S3852

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

S3853

Genetic testing for myotonic muscular dystrophy

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Policy activity

  • 02/13/2018 - Date of origin
  • 09/01/2018 - Effective date
Revision date
  • 09/01/2018

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