Spinocerebellar Ataxia Repeat Expansion Analysis

New York
Approved

Genes

ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A

Conditions

  • Hereditary 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
  • Machado-Joseph disease
  • Cerebellar Ataxia
  • Ataxia
  • Spinocerebellar Ataxia

Clinical Utility

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

Lab Method

  • PCR Fragment Analysis

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.

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