Test ID: DBMD    
Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies

Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD)

Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of prognosis)

Determination of carrier status in family member at risk for DMD or BMD

Prenatal diagnosis of DMD or BMD in at-risk pregnancies

Deletions and duplications only.

If testing is being performed due to family history, documentation regarding the familial mutation before testing an asymptomatic individual or proceeding with carrier testing is preferred.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

See Neuromuscular Myopathy Testing Algorithm in Special Instructions.

• Informed Consent for Genetic Testing
• Molecular Genetics: Neurology Patient Information
• Neuromuscular Myopathy Testing Algorithm
• Informed Consent for Genetic Testing (Spanish)

Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)