Spinocerebellar Ataxia & Related Disorders Panel

Concurrent analysis of multiple genes associated with spinocerebellar ataxia, oculomotor apraxia, or spastic paraplegia. Of note, this testing does not include repeat expansion analysis. 

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

AARS2, ABCD1, AFG3L2, ANO10, APTX, ATM, CACNA1A, CACNA1G, CLN5, CYP27A1, CYP7B1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GNB4, GRID2, GRM1, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCND3, KIAA0196, KIF5A, MME, NOTCH3, PDYN, PEX7, PMM2, PNKP, PNPLA6, POLG, POLR3A, PRKCG, PRNP, RRM2B, SACS, SETX, SLC20A2, SPG11, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TGM6, TMEM240, TPP1, TTBK2, TTPA, TWNK, ZFYVE26

Conditions

  • Ataxia
  • Episodic Ataxia
  • Oculomotor apraxia
  • Spastic paraplegia
  • Spinocerebellar Ataxia

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: TL12
CPT Codes*: 81404x2, 81405x2, 81406x2, 81407x1, 81408x2, 81479x3, 81185x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

*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