Limb-Girdle Muscular Dystrophy


Test Details
TEST CODE NGS422
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 29
CPT CODE 81404, 81405 x4, 81406 x3, 81408
PRICE $1795
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Limb-girdle muscular dystrophies (LGMD) are typically non-syndromic with clinical involvement limited to skeletal muscle. Individuals with LGMD generally show weakness and wasting restricted to the proximal and distal limb musculature, and muscle degeneration/regeneration on muscle biopsy. Onset, progression, and distribution of the weakness and wasting vary considerably among individuals and genetic subtypes.

The limb-girdle muscular dystrophies typically show dystrophic changes on muscle biopsy, which is usually associated with elevated serum creatine kinase concentration. For any male or female suspected of having limb-girdle muscular dystrophy, it is necessary to first rule out an X-linked dystrophinopathy. Biochemical testing (i.e., protein testing by immunostaining or immunoblotting) performed on a muscle biopsy can establish the diagnosis of the several LGMD types. In some cases, demonstration of complete or partial deficiencies for any particular protein can then be followed by molecular analysis of the corresponding gene. Pathogenic variants in many genes have been associated with types of LGMD.

Relevant Diseases
  • Limb-Girdle Muscular Dystrophy

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: Acceptable specimen types: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. Cell culture media may be requested from MNG; (6) Buccal cells.
Shipping Condition: Shipping instructions: MNG Kits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG Kit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped frozen in an insulated container with 5-7lbs dry ice. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge. (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted). (5) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). Ship priority overnight.

Genes Assessed
ANO5
CAPN3
CAV3
DES
DMD
DNAJB6
DYSF
FKRP
FKTN
GMPPB
HNRNPDL
ISPD
LMNA
MYOT
PLEC
PNPLA2
POMGNT1
POMK
POMT1
POMT2
SGCA
SGCB
SGCD
SGCG
TCAP
TNPO3
TOR1AIP1
TRIM32
TTN

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