Muscular Dystrophy Testing at The University of Iowa

University of Iowa Diagnostic Laboratories (UIDL)

Department of Pathology
Room 5231, RCP
Iowa City, Iowa 52242-1181
319-384-7212 Tel
319-384-7213 Fax

MUSCULAR DYSTROPHY TESTING AT THE UNIVERSITY OF IOWA
Dystrophy

               Method

Specimen

X-linked Recessive

   DMD, BMD, and
   manifesting carriers

Immunofluorescence
  (dy4 and dy8 dystrophin antibodies)

  (also spectrin, α- and β-dystroglycan,
   utrophin and nNOS antibodies)
Frozen muscle

   Emery-Dreifuss

Immunofluorescence
  (emerin antibody)
Frozen muscle or skin

Autosomal Dominant

   FSHD

Southern blot
  (p13E-11 probe to identify 4q35
   deletion; 4qA and 4qB allele testing also
   available)
Peripheral blood or
prenatal samples

   LGMD1B Sequencing LMNA Peripheral blood

   LGMD1C

Immunofluorescence
  (caveolin-3 antibody)
Frozen muscle

   Myotonic Dystrophy (DM1) Southern blot and PCR Peripheral blood

Autosomal Recessive

   LGMD

Immunofluorescence

  (α, β, δ, and γ-sarcoglycan antibodies
   for LGMD2C, D, E, and F)

  (dysferlin antibody for LGMD2B and
   Miyoshi myopathy)

  (α- and β-dystroglycan antibodies for
   LGMD2I)

PCR for LGMD2D, 2E and 2I common
  mutations

CAPN3 for LGMD2A

Sequencing FKRP for LGMD2I

Frozen muscle

Peripheral blood

Peripheral blood
Peripheral blood

    CMD

Immunofluorescence

  (α2-laminin (merosin) antibody)

  (α- and β-dystroglycan antibodies)

  (collagen VI antibody)

Sequencing FKRP for MDC1C
Sequencing POMT1 for Walker-Warburg
   Syndrome
Sequencing POMGnT1 for muscle-eye-brain
   disease
Sequencing FCMD for Fukuyama CMD
   and WWS
Frozen muscle or skin

Peripheral blood
Peripheral blood

Peripheral blood

Peripheral blood
06/08

Dystrophy	Method	Specimen
X-linked Recessive
DMD, BMD, and manifesting carriers	Immunofluorescence (dy4 and dy8 dystrophin antibodies) (also spectrin, α- and β-dystroglycan, utrophin and nNOS antibodies)	Frozen muscle
Emery-Dreifuss	Immunofluorescence (emerin antibody)	Frozen muscle or skin

Autosomal Dominant
FSHD	Southern blot (p13E-11 probe to identify 4q35 deletion; 4qA and 4qB allele testing also available)	Peripheral blood or prenatal samples
LGMD1B	Sequencing LMNA	Peripheral blood
LGMD1C	Immunofluorescence (caveolin-3 antibody)	Frozen muscle
Myotonic Dystrophy (DM1)	Southern blot and PCR	Peripheral blood

Autosomal Recessive
LGMD	Immunofluorescence (α, β, δ, and γ-sarcoglycan antibodies for LGMD2C, D, E, and F) (dysferlin antibody for LGMD2B and Miyoshi myopathy) (α- and β-dystroglycan antibodies for LGMD2I) PCR for LGMD2D, 2E and 2I common mutations CAPN3 for LGMD2A Sequencing FKRP for LGMD2I	Frozen muscle Peripheral blood Peripheral blood Peripheral blood
CMD	Immunofluorescence (α2-laminin (merosin) antibody) (α- and β-dystroglycan antibodies) (collagen VI antibody) Sequencing FKRP for MDC1C Sequencing POMT1 for Walker-Warburg Syndrome Sequencing POMGnT1 for muscle-eye-brain disease Sequencing FCMD for Fukuyama CMD and WWS	Frozen muscle or skin Peripheral blood Peripheral blood Peripheral blood Peripheral blood