Muscular Dystrophy Testing at The University of Iowa

Dystrophy	Method	Specimen
X-linked Recessive
DMD, BMD, and manifesting carriers	Immunofluorescence screen with four dystrophin antibodies (carboxy terminus, two rod domain, and amino terminus); 12 additional antibodies available for more detailed epitope mapping [also use spectrin, α- and β-dystroglycan, sarcoglycans, utrophin, embryonic myosin heavy chain and nNOS antibodies to more completely evaluate muscle biopsies]	Frozen muscle
Emery-Dreifuss	Immunofluorescence emerin antibody (lamin A/C antibody used as positive control for integrity	Frozen muscle or skin
Autosomal Dominant
FSHD1 and FSHD2	Southern blots p13E-11 probe to identify 4q35 deletions 4qA and 4qB haplotype testing prenatal testing methylation assay SMCHD1 sequencing	Peripheral blood samples or prenatal CVS or amniocyte cultures
LGMD 1B and EDMD	Sequencing LMNA gene	Peripheral blood
LGMD 1C	Immunofluorescence caveolin-3 antibody	Frozen muscle
Myotonic Dystrophy (DM1)	Southern blot and PCR	Peripheral blood
Autosomal Recessive
LGMD 2A, 2B, 2C, 2D, 2E, 2F, 2I and other dystroglycanopathies	Immunofluorescence α, β, δ, and γ-sarcoglycan antibodies for LGMD 2C, D, E, and F dysferlin antibody for LGMD 2B and Miyoshi myopathy (MM) α- and β-dystroglycan antibodies for LGMD 2I and other dystroglycanopathies	Frozen muscle
	Molecular genetic testing PCR for LGMD 2D, 2E and 2I common mutations CAPN3 sequencing for LGMD 2A DYSF sequening for LGMD 2B or MM FKRP sequencing for LGMD 2I FKTN, ISPD, POMT1, POMT2, POMGnT1 sequencing for less common forms of LGMD dystroglycanopathy	Peripheral blood
CMD (various subtypes)	Immunofluorescence
	α-2-laminin (merosin) antibodies for merosin-deficient CMD (MDC1A)	Frozen muscle or skin
	α- and β-dystroglycan antibodies for dystroglycanopathies	Frozen muscle
	collagen VI antibody in dual label protocol with anti-perlecan for Ullrich CMD	Frozen muscle
	Molecular genetic testing FKRP sequencing for MDC1C FKRP, FKTN, ISPD, POMT1, POMT2 sequencing for Walker-Warburg syndrome POMGnT1 sequencing for muscle-eye- brain disease FKTN sequencing or PCR for ancestral retrotransposon in Fukuyama CMD	Peripheral blood

04/15