University of Iowa Diagnostic Laboratories (UIDL) Department of Pathology Room 5231, RCP Iowa City, Iowa 52242-1181 319-384-7212 Tel 319-384-7213 Fax

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 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	Frozen muscle Peripheral blood
CMD (various subtypes)	Immunofluorescence - α-2-laminin (merosin) antibodies for merosin-deficient CMD (MDC1A) - α- and β-dystroglycan antibodies for dystroglycanopathies - collagen VI antibody in dual label protocol with anti-perlecan for Ullrich CMD 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	Frozen muscle or skin Frozen muscle Frozen muscle Peripheral blood

04/15