Congenital muscular dystrophy, type 1A (MDC1A; merosin-deficient CMD)
Muscle or skin biopsy immunostaining for laminin α2, (merosin) (requires frozen tissue)
Muscle & Nerve Biopsy Requisition
Congenital muscular dystrophy, dystroglycanopathies
Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
Muscle & Nerve Biopsy Requisition
Molecular testing for dystroglycanopathy gene variants
Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
Molecular Genetics General Consult Requisition
Fukuyama congenital muscular dystrophy (FCMD)
Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
Muscle & Nerve Biopsy Requisition
Molecular testing for FKTN variants
Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
Molecular Genetics General Consult Requisition
Muscle-eye-brain disease (MEB)
α-dystroglycan (requires frozen tissue)
Muscle & Nerve Biopsy Requisition
Molecular testing for POMGnT1 variants
Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
Molecular Genetics General Consult Requisition
Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy
Muscle biopsy immunostaining for collagen VI, dual label method with perlecan (requires frozen tissue)
Muscle & Nerve Biopsy Requisition
Walker-Warburg syndrome (WWS)
Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
Muscle & Nerve Biopsy Requisition
Molecular testing for POMT1, POMT2, POMK, LARGE1, and other dystroglycanopathy gene variants
Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
Molecular Genetics General Consult Requisition