Genomic Unity® Neuromuscular Disorders Analysis

Test Description

Test Code – NR007

Neuromuscular disorders encompass a wide spectrum of nerve-related diseases and conditions that affect the body’s muscles. People often experience progressive muscle weakness and atrophy due to disrupted communication between the nervous system and the muscles they control. Symptoms may include twitching or uncontrolled movements, cramps, pain, muscle weakness or rigidity, as well as difficulty with coordinated movements. 

Genomic Unity® Neuromuscular Disorders Analysis uses a whole genome sequencing platform to diagnose genetic causes of muscle weakness in 133 genes.

When to Order

Order this test when clinical symptoms are consistent with muscular dystrophy, myotonic dystrophy types I or II (DM1 or DM2), congenital myopathy, or congenital myasthenic syndrome. 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 neuromuscular-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
  • Copy number variant analysis of neuromuscular-associated genes (deletions/duplications, mobile element insertions, and inversions).
  • Repeat expansion analysis of the CNBP, DMPK, GIPC1, LRP12, RFC1, VWA1 and ZFHX3 genes. (Learn more)

Optionally includes:

Included Genes

Note: The NEB gene is not fully covered by this test, therefore not all pathogenic variants may be detected. The NEB and TTN genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. The false negative rate for repeat expansions has not been determined.

Disorders

This test covers many disorders including: 

  • Becker and Duchenne muscular dystrophy
  • Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)
  • Myotonic dystrophy type I
  • Myotonic dystrophy type II
  • Congenital myopathy syndromes
  • Congenital myasthenic syndromes

Test Performance

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

CPT Codes

881443, 81173, 81250, 81401, 81403, 81404, 81405, 81406, 81407, 81408, 81479

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

Specimen Requirements

Saliva

2ml

Specimen Requirements

gDNA

5μg

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.

Learn More