Dystrophinopathies

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


Indications:

  • 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
Deletion/Duplication analysis
  • Approximately 60-70% of individuals with DMD/BMD will have a deletion in one or more exons
  • Approximately 5-10% of males with DMD/BMD have identifiable duplications 
DMD gene sequencing    
  • Gene sequencing of entire DMD coding region using a next generation sequencing platform
  • Approximately 25-35% of males with DMD and 10-20% of individuals with BMD have point mutations detectable by gene sequencing
  • If additional concerns with dysmorphic features or other health concerns, the Autism/Intellectual Disability/Multiple Anomalies Next Generation Sequencing test (COMING SOON!) should be considered
Familial Mutation Analysis
  • Available if DMD mutation previously identified
  • Method of testing depends on the type of mutation previously identified in the family
  • If DMD mutation is identified for a an affected family member with DMD/BMD/DMD-associated DCM, familial mutation analysis should be considered for the patient’s mother

 


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
          UPD Array
          Molecular Testing – refer to Test Catalog for tests offered at HGL


Specimen requirements:

  • 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

CPT codes:

  • 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 


Shipping & Handling 

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 

revised: 8-16-12

contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

CAP Accredited
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