Genomic Unity® Comprehensive Ataxia Analysis

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 55 genes. This test includes additional analyses beyond the repeat expansion genes in 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).
  • Repeat expansion analysis of the ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, FMR1, FXN, GLS, NOP56, PPP2R2B, RFC1, TBP and ZFHX3 genes. (Learn more)

Optionally includes:

Included Genes

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.


This test covers many disorders including:

  • Ataxia Telangiectasia
  • Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)
  • 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
  • Spinocerebellar ataxia 27A
  • Spinocerebellar ataxia 27B, late-onset

Test Performance

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

CPT Codes


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



Specimen Requirements



Specimen Requirements



Specimen Requirements

Turnaround Time

A report will be issued within 4-8 weeks from receipt of all sample requirements.

Contact Us

Please contact customer service to request a kit.

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