Genomic Unity® Comprehensive Ataxia Analysis

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Test Description

Test Code – NR002

Ataxias are a group of neurological conditions most often related to degeneration of the cerebellum, the part of the brain that coordinates movement. Ataxia can affect different parts of the body, speech, eye movements, and balance.

Genomic Unity® Comprehensive Ataxia Analysis uses a whole genome sequencing platform to diagnose genetic causes of ataxia in 52 genes. This test includes additional analyses beyond the repeat expansion genes on the Genomic Unity® Ataxia Repeat Expansion Analysis.

When to order

Order this test when clinical symptoms are consistent with ataxia and you’d like to test a broader set of genes than just the repeat expansion loci. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of ataxia-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
  • Copy number variant analysis of ataxia-associated genes (duplications/deletions, mobile element insertions, and inversions)
  • Short tandem repeat (STR) analysis of the ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FMR1, FXN, NOP56, PPP2R2B, and TBP genes

Optionally includes:

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Note: The ATXN7 gene is not fully covered by this test, therefore not all pathogenic variants may be detected. The false negative rate for repeat expansions has not been determined for ATXN10, NOP56 and TBP.

Disorders

This test covers many disorders including:

  • Ataxia Telangiectasia
  • Fragile X–associated tremor/ataxia syndrome
  • Friedreich’s ataxia
  • Marinesco-Sjogren syndrome
  • Spinocerebellar ataxias
  • Spastic ataxias
  • Episodic ataxias
  • Coenzyme Q10 deficiency
  • Ataxia, posterior column, with retinitis pigmentosa
  • Mitochondrial recessive ataxia syndrome
  • Ataxia with isolated vitamin E deficiency

Test Performance

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

CPT Codes

0217U

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

2ml

gDNA

5μg

Turnaround Time

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

Contact Us

Please contact customer service to request a kit.

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