Genomic Unity® Muscular Dystrophy Analysis

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Test Description

Test Code – NR008

Muscular dystrophies are a group of genetic disorders characterized by progressive muscle degeneration and weakness. The affected muscle groups, age of onset, and additional clinical features are dependent upon the type of disease.

Genomic Unity® Muscular Dystrophy Analysis uses a whole genome sequencing platform to diagnose genetic causes of muscle weakness in 52 genes.

When to order

Order this test when clinical symptoms of muscle weakness are present and consistent with the muscular dystrophies listed below. 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.

If you strongly suspect your patient of having Duchenne or Becker muscular dystrophy, consider ordering Genomic Unity® DMD Gene Analysis.

For a broader analysis of genes associated with neuromuscular disorders (muscular dystrophies, myopathies, myotonic syndromes, congenital myasthenic syndrome, congenital disorders of glycosylation), consider ordering Genomic Unity® Neuromuscular Disorders Analysis.

Notes about testing:

At this time, Genomic Unity® Muscular Dystrophy Analysis does not include analysis of tandem repeat expansions in the PABPN1 gene. This is not an appropriate test if you suspect oculopharyngeal muscular dystrophy.

Included Analyses

  • Sequence analysis of muscular dystrophy-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
  • Copy number variant analysis of muscular dystrophy-associated genes (duplications/deletions, mobile element insertions, and inversions).

Optionally includes:

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Note: The TTN gene contains regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation.

Disorders

This test covers many disorders including:

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Emery-Dreifuss muscular dystrophies
  • Limb-Girdle muscular dystrophies
  • Muscular dystrophy-dystroglycanopathies
  • Rigid spine muscular dystrophy
  • Ullrich congenital muscular dystrophy
  • Walker-Warburg syndrome
  • Other congenital muscular dystrophies

Test Performance

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

CPT Codes

81443, 81161, 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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