Genomic Unity® Comprehensive Ataxia Analysis

NR002

Genomic Unity® Comprehensive Ataxia Analysis is a diagnostic test designed to identify genetic variants that cause ataxia, with or without other symptoms.

Test Description

Genomic Unity® Comprehensive Ataxia Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 55 ataxia-associated genes.

Genomic Unity® Comprehensive Ataxia Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.

Learn More About Ataxia Testing With Variantyx

When to Order

Order this test when clinical symptoms are consistent with ataxia disorder.

Included Genes

AFG3L2, ANO10, APTX, ATM, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, CACNA1G, CACNB4, COQ8A, EEF2, ELOVL4, ELOVL5, FGF14, FLVCR1, FMR1, FXN, GLS, GRM1, ITPR1, KCNA1, KCNC3, KCND3, MME, MRE11 (MRE11A), MTPAP, NOP56, PDYN, POLG, PPP2R2B, PRKCG, RFC1, SACS, SETX, SIL1, SLC1A3, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TTBK2, TTPA, TWNK (C10orf2), VAMP1, ZFHX3

Included Analyses

  • Sequence analysis of included ataxia-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of ataxia-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Short tandem repeat (STR) analysis of the ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, FMR1, FXN, GLS, NOP56, PPP2R2B, RFC1, TBP, and ZFHX3 genes. (Learn more).

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks. Turnaround time begins when samples and all required documents and approvals are received.

Sample Types

CPT Codes

0217U

The CPT codes provided 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.

Methods and Limitations

Genomic Unity® Comprehensive Ataxia Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
The ATXN7 gene is not fully covered by this test, therefore not all pathogenic variants may be detected.