Congenital muscular dystrophy, type 1A (MDC1A; merosin-deficient CMD)
  Muscle or skin biopsy immunostaining for laminin α2, (merosin) (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Congenital muscular dystrophy, dystroglycanopathies
  Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition
  Molecular testing for dystroglycanopathy gene variants 
  Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
  Molecular Genetics General Consult Requisition

Fukuyama congenital muscular dystrophy (FCMD)
  Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition
  Molecular testing for FKTN variants
  Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
  Molecular Genetics General Consult Requisition

Muscle-eye-brain disease (MEB)
  α-dystroglycan (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition
  Molecular testing for POMGnT1 variants
  Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
  Molecular Genetics General Consult Requisition

Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy
  Muscle biopsy immunostaining for collagen VI, dual label method with perlecan (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Walker-Warburg syndrome (WWS)
  Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition
  Molecular testing for POMT1, POMT2, POMK, LARGE1, and other dystroglycanopathy gene  variants
  Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
  Molecular Genetics General Consult Requisition

Becker muscular dystrophy (BMD)
Muscle biopsy immunostaining for dystrophin, utrophin and nNOS (requires frozen tissue)
Muscle & Nerve Biopsy Requisition

Duchenne muscular dystrophy (DMD)
Muscle biopsy immunostaining for dystrophin, utrophin and nNOS (requires frozen tissue)
Muscle & Nerve Biopsy Requisition

Manifesting carriers of dystrophin mutations
Muscle biopsy immunostaining for dystrophin, utrophin and nNOS (requires frozen tissue)
Muscle & Nerve Biopsy Requisition

X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) and manifesting carriers of emerin mutations
  Muscle or skin biopsy immunostaining for emerin (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Please read the FSHD page for more information.

Optical Mapping for 4q35 deletion detection and 4qA/4qB haplotyping
D4Z4 methylation testing
SMCHD1 sequencing

• Importer Certification Statement
• FSHD1 and FSHD2 International Requisition
• FSHD1 and FSHD2 Requisition
• Prenatal FSHD Testing Requisition

Iowa Publications
CLIA laboratory genetic testing of facioscapulohumeral muscular dystrophy: a retrospective analysis. Rieken A, Bossler AD, Mathews KD, Moore SA. Neurology 96(7):e1054-e1062, 2021.

Validation of optical genome mapping for the molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD). Stence AA, Thomason JG, Pruessner JA, Sompallae RR, Snow AN, Ma D, Moore SA, D Bossler AD.   J Molecular Diagnostics 23:1506-1514, 2021. 

Limb-girdle muscular dystrophy, type 2A (LGMD2A/R1)
  Muscle biopsy western blot for calpain-3 in Dr. Moore’s research lab (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Limb-girdle muscular dystrophy, type 2B/R2 (LGMD2B/R2)
  also the distal myopathy, Miyoshi myopathy
  Muscle biopsy immunostaining for dysferlin (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Limb-girdle muscular dystrophy, type 2C/R5 (LGMD2C/R5)
  Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Limb-girdle muscular dystrophy, type 2D/R3 (LGMD2D/R3)
  Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Limb-girdle muscular dystrophy, type 2E/R4 (LGMD2E/R4)
  Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Limb-girdle muscular dystrophy, type 2F/R6 (LGMD2F/R6)
  Muscle biopsy immunostaining for all four sarcoglycans (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition

Limb-girdle muscular dystrophy, type 2I/R9 (LGMD2I/R9)
  Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition
  Molecular testing for FKRP variants
  Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
  Molecular Genetics General Consult Requisition

Limb-girdle muscular dystrophy, other dystroglycanopathies
  Muscle biopsy immunostaining for α-dystroglycan (requires frozen tissue)
  Muscle & Nerve Biopsy Requisition
  Molecular testing for dystroglycanopathy gene variants
  Dystroglycanopathy Mutation Profile with Interpretation [LAB8801]
  Molecular Genetics General Consult Requisition

PCR for detection of trinucleotide repeat expansion
  Southern blot to determine repeat size
  Molecular Genetics General Consult Requisition

Final reports are faxed. If you have specific questions regarding the specimen preparation and/or shipping process or results, please contact UIDL Client Services at 866-844-2522.

• How to send a muscle biopsy
• Muscle and Nerve Biopsy Kit Order Form
• Muscle and Nerve Biopsy Requisition

The UI Diagnostic Laboratories provides a full range of Anatomic Pathology consultation services. We provide advanced technologies and professional expertise. Our faculty are available for consultation for all referred materials. Please refer to Faculty and Services for details.

A preliminary diagnosis can be obtained by calling Steven A. Moore, MD, PhD, at 319-384-9084. Final reports are faxed and final copies are mailed. Written reports indicate patient information, accession number, slide/blocks examined, stains performed and interpretation.

Muscle & Nerve Biopsy Kit Order Form

How to Send a Nerve Biopsy

Muscle & Nerve Biopsy Requisition

A variety of laboratory tests are available in the research laboratories of Drs. Steven A. Moore and Kevin P. Campbell and the Iowa Wellstone Muscular Dystrophy Cooperative Research Center.  The test menu varies over time, but may include additional immunostaining of muscle or skin biopsies, western blotting from muscle biopsy samples, and assays utilizing cultured fibroblasts or myoblasts.  Research testing must be pre-arranged; contact Steven A. Moore (steven-moore@uiowa.edu).

Related Links:

• Paul D. Wellstone Muscular Dystrophy Cooperative Research Center
• Steven A. Moore, MD, PhD, Department of Pathology, University of Iowa 
• The Laboratory of Dr. Kevin P. Campbell 

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