Genomic Unity® Comprehensive Ataxia Analysis

Ataxias are a group of neurological conditions most often related to degeneration of the cerebellum, the area of the brain responsible for coordinating movement.

With its single method approach to detecting and analyzing tandem repeat expansions, structural variants and small sequence changes, Genomic Unity® Comprehensive Ataxia Analysis is an effective test for diagnosis of ataxias. It provides comprehensive coverage of ataxia-related genes in addition to the ataxia repeat expansion loci that are the focus of Genomic Unity® Ataxia Repeat Expansion Analysis.

Order this test when the patient presents with symptoms of ataxia and you'd like the option to test a broader set of genes than just the repeat expansion loci, keeping the option reflex up to Genomic Unity® Whole Genome Analysis.

  • Sequencing analysis of ataxia associated genes
  • Del/dup analysis of ataxia associated genes
  • Ataxia STR analysis: ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, PPP2R2B, TBP

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

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

 

SNVs and Indels up to 50bp
99.7% sensitivity
99.6% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

81173, 81177, 81178, 81179, 81180, 81181, 81182, 81183, 81184, 81185, 81284, 811286, 81343, 81344, 81404, 81405, 81406, 81407, 81408, 81479

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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.