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   of nuclear envelopes)	Frozen muscle or skin
Autosomal Dominant
FSHD	Southern blot   -p13E-11 probe to identify 4q35 deletions   -4qA and 4qB allele testing   -prenatal testing	Peripheral blood or prenatal CVS or amniocyte samples
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, 2K, 2M, 2N,      and 2O	Immunofluorescence   α, β, δ, and γ-sarcoglycan antibodies    for LGMD 2C, D, E, and F   dysferlin antibody for LGMD 2B and    Miyoshi myopathy   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   FKRP sequencing for LGMD 2I   FKTN, POMT1, POMT2, POMGnT1    sequencing for less common forms of    LGMD dystroglycanopathy	Frozen muscle Peripheral blood
CMD (various subtypes)	Immunofluorescence   α 2-laminin (merosin) antibody 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   POMT1, POMT2, FKTN, and FKRP    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

05/10