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® Comprehensive 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 to reflex up to Genomic Unity® Whole Genome Analysis.
- Sequencing analysis of ataxia tandem repeat genes
- Del/dup analysis of ataxia tandem repeat genes
- Ataxia STR analysis: ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FXN, NOP56, PPP2R2B, TBP
- Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis
ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, FXN, NOP56, PPP2R2B, TBP
SNVs and Indels up to 50bp
99.5% positive predictive value
96% clinical sensitivity
Short tandem repeats:
Due to the variable nature of repetitive sequence and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.
81173, 81177, 81178, 81179, 81180, 81181, 81182, 81183, 81184, 81185, 81284, 81286, 81343, 81344, 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.