Ataxia Repeat Expansion Analysis

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Dentatorubral-Pallidoluysian Atrophy
Fragile X-Associated Tremor/Ataxia Syndrome
Friedreich's Ataxia
Spinocerebellar Ataxia

The Ataxia Repeat Expansion Analysis tests for repeat expansions in genes associated with ataxic conditions.
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

Print
  • Rush / STAT
  • Exclude VUS
3 - 5 weeks
Call for details
ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, BEAN1, CACNA1A, FMR1, FXN, NOP56, PPP2R2B, TBP ( 15 genes )
Call for Details
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All repeat expansion assays have limitations. This analysis is performed by repeat-primed PCR (rpPCR) and amplicon length analysis. The scope of this assay is limited to repeat expansion analysis of the gene. This repeat expansion analysis may not elicit the precise number of repeats present in large expansions. Gene sequencing and deletion/duplication analysis are not included in this assay, but can be ordered separately. This analysis does not include methylation studies.

CPT Code 81243x1, 81401x2, 81404x1, 81407x1, 81479x1

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.