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® Exome Plus 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 AR and KDM5C genes are not fully covered by this test, therefore not all pathogenic variants may be detected. Small sequence changes identified in the SMN1 or SMN2 genes might not be assigned to the correct location, limiting interpretation.

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
 %
Clinical sensitivity for STRs

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

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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