Genomic Unity® FXN Gene 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® FXN Gene Analysis is an effective genetic test for Friedreich’s ataxia. Friedreich’s ataxia is a recessive condition most frequently caused by a GAA repeat expansion of both FXN alleles. However, in some cases it is caused by a GAA repeat expansion in one FXN allele and a pathogenic variant in the other FXN allele. Genomic Unity® FXN Gene Analysis provides full sequencing and repeat expansion analysis of the FXN gene for comprehensive detection of both variant types.
For comprehensive testing of ataxia-related genes in addition to FXN, consider Genomic Unity® Comprehensive Ataxia Analysis.
Order this test when the patient presents with symptoms of Friedreich's ataxia and you'd like the option to specifically test the FXN gene, keeping the option to reflex up to Genomic Unity® Whole Genome Analysis.
- Sequencing analysis of the FXN gene
- Del/dup analysis of the FXN gene
- Tandem repeat expansion analysis of the FXN gene
- Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis
SNVs and Indels up to 50bp
99.6% positive predictive value
96% clinical sensitivity
Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported as expanded alleles. All reported tandem repeat expansions are confirmed by an orthogonal technology.
81284, 81286, 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.