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Immunostaining (Biopsies) and Molecular Testing (DNA) Menu

FSHD Testing

Immunostaining (Biopsies) 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, Hamlet 2 and Romeo)
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 up to 15 antibodies)
Emerin
Lamin A/C
Laminin alpha2 (merosin; 80kd, 300kd, and amino terminus)
LAMP1
LAMP2
Merosin (laminin alpha2; 80kd, 300kd, and amino terminus)
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

Molecular Testing (DNA) Menu

Dystroglycanopathy Mutation Profile with Interpretation
FSHD1 and FSHD2:  Routine, 4qA/4qB, Prenatal, D4Z4 methylation, SMCHD1 sequencing
Myotonic Dystrophy (DM1)
FSHD1 and FSHD2 Requisition / FSHD1 and FSHD2 International Requisition
Molecular Genetics General Consult Requisition