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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)

Limb-Girdle Muscular Dystrophy, Autosomal Recessive (LGMD2)

Limb-girdle muscular dystrophy, type 2A (LGMD2A)

Molecular testing of calpain-3 (CAPN3) by direct gene sequencing

Muscular Dystrophy Molecular Genetics Requisition

Limb-girdle muscular dystrophy, type 2B (LGMD2B)

also the distal myopathy, Miyoshi myopathy
Muscle biopsy immunostaining for dysferlin (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition

Limb-girdle muscular dystrophy, type 2C (LGMD2C)

Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition

Limb-girdle muscular dystrophy, type 2D (LGMD2D)

Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition

Molecular testing of α-sarcoglycan (SGCA)
PCR-based detection of common point mutation (c.229C>T; p.R77C)

Muscular Dystrophy Molecular Genetics Requisition

Limb-girdle muscular dystrophy, type 2E (LGMD2E)

Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition
Molecular testing of β-sarcoglycan (SGCB)
PCR-based detection of common point mutation (c.341C>T; p.S114F)

Muscular Dystrophy Molecular Genetics Requisition

Limb-girdle muscular dystrophy, type 2F (LGMD2F)

Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition

Limb-girdle muscular dystrophy, type 2I (LGMD2I)

Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition

Molecular testing of fukutin-related protein (FKRP)

• PCR-based detection of common point mutation (c.826C>A; p.L276I)
• Direct gene sequencing
Muscular Dystrophy Molecular Genetics Requisition

Limb-girdle muscular dystrophy, type 2K (LGMD2K)

Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition

Molecular testing of POMT1 by direct gene sequencing

Muscular Dystrophy Molecular Genetics Requisition

Limb-girdle muscular dystrophy, type 2M (LGMD2M)

Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition

Molecular testing of fukutin (FKTN) by direct gene sequencing

Muscular Dystrophy Molecular Genetics Requisition

Limb-girdle muscular dystrophy, type 2N (LGMD2N)

Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition
Molecular testing of POMT2 by direct gene sequencing

Muscular Dystrophy Molecular Genetics Requisition

Limb-girdle muscular dystrophy, type 2O (LGMD2O)

Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)

Muscular Dystrophy Biopsy Requisition
Molecular testing of POMGnT1 by direct gene sequencing

Muscular Dystrophy Molecular Genetics Requisition