Genomic Unity® Muscular Dystrophy Analysis

NR008

Muscular dystrophies are a group of genetic disorders characterized by progressive muscle degeneration and weakness.

Genomic Unity® Muscular Dystrophy Analysis is an effective test for the genetic cause of muscle weakness in patients suspected of having one of the following muscular dystrophies:

As well as other congenital muscular dystrophies.

Order this test when the patient presents with symptoms of muscle weakness consistent with the muscular dystrophies listed and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

If you strongly suspect your patient of having Duchenne or Becker muscular dystrophy, you may want to consider ordering the more specific 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), you may want to 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. If you suspect oculopharyngeal muscular dystrophy, this is not an appropriate test.

  • Sequencing analysis of muscular dystrophy associated genes
  • Del/dup analysis of muscular dystrophy associated genes

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

ANO5, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, HNRNPDL, ISPD, ITGA7, LAMA2, LARGE1, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SUN1, SUN2, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN

 

Disorders that can be tested for include:

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

SNVs and Indels up to 50bp
99.8% sensitivity
99.7% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Due to the variable nature of repetitive sequence and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

81161, 81403, 81404, 81405, 81406, 81407, 81408

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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.

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