Congenital Muscular Dystrophy (CMD)
Congenital muscular dystrophy, type 1A (MDC1A; merosin-deficient CMD)
-
Muscle or skin biopsy immunostaining for laminin α2, (merosin) (requires frozen tissue)
-
Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
- PCR-based detection of common point mutation (c.826C>A; p.L276I)
- Direct gene sequencing
Muscular Dystrophy Molecular Genetics Requisition
Molecular testing of fukutin-related protein (FKRP)
-
Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
-
Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
- Direct gene sequencing
- Detection of ancestral Japanese retrotransposon insertion
Muscular Dystrophy Molecular Genetics Requisition
Molecular testing of glycosyltransferase, fukutin (FKTN)
Muscle-eye-brain disease (MEB)
-
α-dystroglycan (requires frozen tissue)
Molecular testing of glycosyltransferase, POMGnT1 by direct gene sequencing
-
Muscle biopsy immunostaining for collagen VI, dual label method with perlecan (requires frozen tissue)
-
Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
Molecular testing of glycosyltransferases (POMT1, POMT2, and POMGnT1) and putative
glycosyltransferases (FKTN and FKRP) by direct gene sequencing