Genetic Test Details | Ontario Health

Congenital Muscular Dystrophy

Test Information

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

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