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 51 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, FXN, NOP56, PPP2R2B, and TBP genes

Optionally includes:

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Disorders

This test covers many disorders including:

  • Ataxia Telangiectasia
  • 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

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

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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