Spinocerebellar Ataxia Repeat Expansion Analysis

Concurrent repeat expansion analysis of multiple genes associated with spinocerebellar ataxia. 

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Test Details

Genes

ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A

Conditions

  • Ataxia
  • Cerebellar Ataxia
  • Hereditary Ataxia
  • Machado-Joseph disease
  • Spinocerebellar Ataxia
  • Spinocerebellar Ataxia type 1 (SCA1)
  • Spinocerebellar Ataxia type 2 (SCA2)
  • Spinocerebellar Ataxia type 3 (SCA3)
  • Spinocerebellar Ataxia type 6 (SCA6)
  • Spinocerebellar Ataxia type 7 (SCA7)
  • Spinocerebellar Ataxia type 8 (SCA8)
  • Spinocerebellar Degeneration

Lab Method

  • PCR Fragment Analysis

Ordering Information

Test Code: TH83
CPT Codes*: 81178x1; 81179x1; 81180x1; 81181x1; 81182x1; 81184x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA Fetal Specimens: 20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs