Genomic Unity® Ataxia Repeat Expansion 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.

Genomic Unity® Ataxia Repeat Expansion Analysis is an effective test for diagnosis of ataxias caused by tandem repeat expansion of 12 different loci. For comprehensive coverage of ataxia-related genes in addition to these repeat expansion loci, consider Genomic Unity® Ataxia Analysis.

Order this test when the patient presents with symptoms of ataxia and you'd like the option to specifically test the 12 repeat expansion loci, keeping the option reflex up to Genomic Unity® Exome  Plus Analysis.

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

ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, FXN, NOP56, PPP2R2B, TBP

SNVs and Indels up to 50bp
99.5% sensitivity
99.5% 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

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.

Scroll Up