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Congenital Muscular Dystrophy

Test Information

Title
Congenital Muscular Dystrophy
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

Last Updated: December 09, 2025