Test name: Dystrophinopathies Testing
Also known as: Duchenne Muscular Dystrophy (DMD) testing, Becker Muscular Dystrophy (BMD) testing, DMD-Associated Dilated Cardiomyopathy (DMD-associated DCM) testing
- Clinical features suggestive of DMD including delays in milestones such as sitting or standing. Proximal weakness which may lead to difficulties walking or climbing, often within the first few years of life with rapid progression.
- Clinical features of BMD with later-onset skeletal muscle weakness and/or DCM.
- Clinical features of DMD-associated DCM with findings of left ventricular dilation and congestive heart failure.
- Prenatal and postnatal testing for at risk relative of an individual with a previously identified mutation in DMD.
Test Information: DMD is the only gene known to cause DMD, BMD, and DMD-associated DCM. Deletion/duplication analysis is recommended prior to DMD gene sequencing due to the high percentage of individuals with deletions and less often duplications. If a familial deletion, duplication, or mutation has been previously identified in the family, familial mutation analysis is recommended instead of complete deletion/duplication analysis and/or complete gene sequencing.
|Name of Test||Method||Additional information|
|DMD gene sequencing ||
|Familial Mutation Analysis||
Additional tests available on postnatal samples (refer to additional pages for details):
Postnatal Chromosome Analysis
Postnatal FISH including Aneuploidy FISH and/or Constitutional (Targeted) FISH
180K Microarray for Congenital Anomalies/DD/Autism
Molecular Testing – refer to Test Catalog for tests offered at HGL
- One 2-5 ml whole blood sodium heparin (green top) tube AND one 2-5 ml whole blood EDTA (purple top) tube*
*If newborn/limited blood – one sodium heparin (green top) tube with 1ml minimum
- 180K Microarray: 83892(x2), 88230, 88271(x16), 88386**
- DMD Gene Sequencing: 83891, 83894(x2), 83898, 83900, 83901(x12), 83904(x12), 83909(x4)**
- Familial Mutation Analysis: Contact the laboratory billing staff for current codes
**Unless using stored DNA from a prior sample, the following DNA Extraction codes (83891, 83894, 83907, 84311) will apply once for microarray/molecular testing.
Pricing: Contact the laboratory billing staff for current costs
Required forms: Postnatal Test Request Form
Turn-around time (times are estimates and may change with volume):
- 180K Microarray: 1-2 weeks
- DMD Gene Sequencing: 4-8 weeks
- Familial Mutation Analysis: 2 weeks