Congenital Muscular Dystrophy

Test Information
Test Name Congenital Muscular Dystrophy
Lab (Location) The Hospital for Sick Children
Category Neurogenetics
Subcategory Congenital Muscular Dystrophy
Gene/Platform/Region List FCMD, FKRP, POMGNT1, POMT1, POMT2
Test type Gene Panel
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Sequencing
Methodology Notes Panel sequencing; Targeted Sanger Sequencing