Duchenne Muscular Dystrophy

Test Information
Test Name Duchenne Muscular Dystrophy
Lab (Location) The Hospital for Sick Children
Category Neurogenetics
Subcategory Duchenne Muscular Dystrophy
Gene/Platform/Region List DMD
Test type Single Gene
Samples Accepted Blood, DNA, DNA (Not Accepted for MLPA)
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology CNV, mRNA, Sequencing
Methodology Notes Gene Dosage (MLPA); Gene Sequencing; mRNA analysis; Targeted Mutation Analysis
Diseases/Conditions Duchenne / Becker Muscular Dystrophy
Notes DNA not accepted for MLPA