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 Whole Genome 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 UnityAtaxia 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:

Included Genes

Disorders

This test covers the following disorder:

  • Friedreich ataxia

Test Performance

 %
Sensitivity for SNVs
 %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

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

Variantyx Blood

Blood

5ml

Variantyx Saliva

Saliva

Contact us for a kit

Variantyx DNA

gDNA

5μg

Turn Around Time

A report will be issued within 4 weeks from receipt of required samples.

Contact Us

Please contact customer service for turnaround time and to request a kit.

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