Genomic Unity® Motor Neuron Disorders Analysis

Test Description

Test Code – NR005

Motor neuron disorders affect the nerves that control the body’s voluntary muscles. These disorders are characterized by progressive muscle weakness and atrophy, spasticity, and overactive tendon reflexes.

Genomic Unity® Motor Neuron Disorders Analysis uses a whole genome sequencing platform to diagnose genetic causes of motor neuron disorders in 116 genes.

When to order

Order this test when clinical symptoms are consistent with motor neuron disorders like amyotrophic lateral sclerosis, hereditary spastic paraplegia, spinal muscular atrophy, or other disorders. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Whole Genome Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of motor neuron disease-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
  • Copy number variant analysis of motor neuron disease-associated genes (duplications/deletions, mobile element insertions, and inversions)
  • Short tandem repeat (STR) analysis of motor neuron disorder-associated genes: AR and c9orf72

Optionally includes:

Included Genes

Note: The SMN2 gene is analyzed for only the determination of copy number for assessment of severity of spinal muscular atrophy (SMA).

Disorders

This test covers many disorders including:

  • Autosomal dominant and recessive spastic paraplegia
  • Amyotrophic lateral sclerosis
  • Spinal and bulbar muscular atrophy (Kennedy disease)
  • Spinal muscular atrophy
  • Hereditary distal motor neuropathy
  • Autotosmal dominant and recessive spastic ataxia
  • Some forms of Charcot-Marie-Tooth disease

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

81443, 81173, 81329, 81336, 81403 x2, 814081443, 81204, 81336, 81403, 81404, 81405, 81406, 81407

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

2ml

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 to request a kit.

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