Ataxia Repeat Expansion Analysis by NGS

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Ataxia
Cerebellar Ataxia
Episodic Ataxia
Dentatorubral-Pallidoluysian Atrophy
Friedreich's Ataxia
Spinocerebellar Ataxia

The Ataxia Repeat Expansion Analysis panel tests for repeat expansions in genes associated with ataxic conditions. This diagnostic test utilizes two independent algorithms to first screen for repeat expansion signatures from whole genome data, then confirm any genes screening positive for repeat expansions by gene-specific single-gene repeat-primed PCR tests.
Patients with a known or suspected family history of ataxia and presentation of symptoms consistent with hereditary ataxia. Signs of ataxia include incoordination of gait, hands, feet, and eye movement. The scope of this assay is limited to repeat expansion analysis of the specified genes. Gene sequencing and deletion/duplication analysis are not included.
Identification of the specific genetic etiology can help confirm a clinical diagnosis and/or determine medical management for a patient. It can also provide information about clinical course of disease and illuminate potential risk for close relatives of the patient.

Test Description

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  • Exclude VUS
3 - 5 weeks
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ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FMR1, FXN, NOP56, PPP2R2B, TBP ( 14 genes )
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
The scope of this assay is limited to repeat expansion analysis of the specified genes. Gene sequencing and deletion/duplication analysis are not included in this assay. This analysis does not include methylation studies unless otherwise specified. Atypical or unexpected changes at the tested loci may not generate a positive signal by this method.

CPT Code 81177,81178,81183,81179,81180,81181,81182x2,81184,81285,81224,81479

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.