Genomic Unity® Neuromuscular Disorders Analysis

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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 126 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).
  • Short tandem repeat (STR) analysis of the CNBP and DMPK genes.

Optionally includes:

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Note: The NEB gene is not fully covered by this test; therefore, variants in certain regions of this gene may not be detected.

Disorders

This test covers many disorders including: 

  • Becker and Duchenne muscular dystrophy
  • 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

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

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

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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