Logo for University of Iowa Health Care This logo represents the University of Iowa Health Care

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 & 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