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Muscular Dystrophy/Muscle Biopsy
Steve Moore, MD, PhD | steven-moore@uiowa.edu
                                            
A national anatomic and clinical pathology reference laboratory
affiliated with UI Health Care

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Muscular Dystrophy Home

Congenital Muscular Dystrophy (CMD)

Duchenne & Becker Muscular Dystrophy
(DMD, BMD, Carriers)


Emery-Dreifuss Muscular Dystrophy
(EDMD)

Facioscapulohumeral Dystrophy (FSHD)

Limb-Girdle Muscular Dystrophy
Autosomal Dominant (LGMD1)


Limb-Girdle Muscular Dystrophy
Autosomal Recessive (LGMD2)


Muscle Biopsy - General Evaluation

Myotonic Dystrophy (DM1)

Nerve Biopsy - General Evaluation

Research Testing

Test Menus
   Immunostaining (Biopsies)
   Molecular Testing (DNA)

Immunostaining (Biopsies) Menu Molecular Testing (DNA) Menu

α-actinin
caveolin-3
collagen VI (dual label method with perlecan)
complement membrane attack complex (C5b-9)
αB-crystallin
dysferlin (Hamlet 1)
dysferlin (Hamlet 2)
α-dystroglycan (glycoepitope, monoclonal IIH6)
α-dystroglycan (glycoepitope, monoclonal VIA4-1)
β-dystroglycan
dystrophin (carboxy terminus)
dystrophin (rod domain)
dystrophin (amino terminus)
emerin
eMHC (embryonic myosin heavy chain)
LAMP1
LAMP2
merosin (laminin α2)
MHC class I
MHC class II
myotilin
nNOS (neuronal nitric oxide synthase)
perlecan
sarcoglycans (α, β, γ, and δ)
spectrin
utrophin
Muscular Dystrophy Biopsy Requisition

calpain-3, CAPN3
FSHD, facioscapulohumeral dystrophy (4qA/4qB)
FSHD, facioscapulohumeral dystrophy (prenatal)
FSHD, facioscapulohumeral dystrophy (routine)
fukutin, FKTN (Japanese ancestral retrotransposon)
fukutin, FKTN (sequencing)
fukutin-related protein, FKRP (common point mutation, p.L276I)
fukutin-related protein, FKRP (sequencing)
lamin A/C, LMNA
LGMD, autosomal recessive common mutation panel
myotonic dystrophy, DM1
POMGnT1
POMT1
POMT2
α-sarcoglycan, SGCA (common point mutation, p.R77C)
β-sarcoglycan, SGCB (common point mutation, p.S114F)

Muscular Dystrophy Molecular Genetics Requisition