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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


Department of Pathology

Immunostaining (Biopsies) Menu Molecular Testing (DNA) Menu
α-actin (cardiac and skeletal muscle isoforms)
α-actinin
Cardiac α-actin
Caveolin-3
Collagen VI (dual label method with perlecan)
Complement Membrane Attack Complex (C5b-9)
αB-crystallin
Desmin
Dysferlin (Hamlet 1 and Hamlet 2)
α-dystroglycan (glycoepitope antibodies IIH6 and VIA4-1)
β-dystroglycan
Dystrophin (screening with four antibodies – amino
   terminus, rod domain, and carboxy terminus)
Dystrophin (epitope mapping with 15 antibodies)
Emerin
Lamin A/C
Laminin-α2 (merosin; 80kd and 300kd antibodies)
LAMP1
LAMP2
Merosin (laminin-α2; 80kd and 300kd forms)
MHC class I
Myosin heavy chain
   (embryonic, fast, neonatal, and slow isoforms)
Myotilin
nNOS (neuronal nitric oxide synthase)
Perlecan
Sarcoglycans (α, β, γ, and δ)
Skeletal muscle α-actin
Spectrin
Utrophin
Muscular Dystrophy Biopsy Requisition
Calpain-3
FSHD, Routine, 4qA/4qB, Prenatal
Fukutin, Japanese Ancestral Retrotransposon
Fukutin - Sequencing
Fukutin-Related Protein (FKRP) - Sequencing
ISPD
Lamin A/C (LMNA)
LARGE
LGMD Common Point Mutations
  • FKRP (L276I)
  • SGCA (R77C)
  • SGCB (S114F)
Myotonic Dystrophy (DM1)
POMGnT1
POMT1
POMT2

Muscular Dystrophy Molecular Genetics Requisition