Genomic Unity® FXN Analysis
Test Description
Genomic Unity® FXN Analysis uses a whole genome sequencing platform to diagnose genetic causes of Friedreich ataxia in the FXN gene.
When to Order
Order this test when the patient presents with symptoms of impaired muscle coordination consistent with Friedreich ataxia and you’d like the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis
For a broader analysis of genes associated with ataxia, such as spinocerebellar ataxias, episodic ataxias, and Machado-Joseph disease, you may want to consider Genomic UnityⓇ Ataxia Repeat Analysis or Genomic UnityⓇ Comprehensive Ataxia Analysis.
Included Analyses
- Sequence analysis of FXN (single nucleotide variants, deletions/insertions, and characterized intronic variants)
- Copy number variant analysis of FXN (duplications/deletions, mobile element insertions, and inversions)
- Short tandem repeat analysis of FXN
Optionally includes:
Disorders
This test covers the following disorder:
- Friedreich ataxia
Test Performance
Short tandem repeats:
Due to the variable nature of repetitive sequences and sequence-specific differences in detection and repeat evaluation, orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.
CPT Codes
81161, 81408
0218U
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.
Accepted Specimens
Blood
5ml
Saliva
Contact us for a kit
gDNA
5μg
Turn Around Time
A report will be issued within 4 weeks from receipt of required samples.
