Genomic Unity® 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® 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® Exome  Plus Analysis.

checkmark Sequencing analysis of ataxia-associated genes

checkmark Del/dup analysis of ataxia-associated genes

checkmarkAtaxia STR analysis: ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, PPP2R2B, TBP

Optionally includes:

checkmark Reflex to Genomic Unity® Exome Plus 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.

81177x1, 81178x1, 81179x1, 81180x1, 81181x1, 81182x1, 81183x1, 81184x1, 81185x1, 81284x1, 81343x1, 81344x1, 81404x1, 81405x2, 81406x4, 81407x1, 81408x2

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 ~8 weeks from sample receipt.

 

Product Sheet

Genomic Unity® Ataxia Analysis


Forms

Test requisition form


Spotlight on Genomic Unity® testing for ataxia patients
Download
Tests which include this analysis

Genomic Unity® Exome Plus Analysis
Genomic Unity® Neurology Analysis
Genomic Unity® Movement Disorders Analysis


Tests which this analysis includes

Genomic Unity® Ataxia Repeat Expansion Analysis


Additional resources

National Ataxia Foundation

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