Congenital Muscular Dystrophies


Test Details
TEST CODE NGS421
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 28
CPT CODE 81404, 81405, 81406 x4
PRICE $1795
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance The congenital muscular dystrophies (CMDs) are clinically defined by low muscle tone and poor reflexes. Disease progression is variable, but progressive, with some individuals showing short-term improvement or stabilization. Common features include progressive weakness and joint contractures, spinal deformities, and respiratory involvement. Histopathology may include dystrophic features and rarely includes structural changes. The CMDs are subdivided into categories by protein function or gene: merosin deficiency (LAMA2), Ullrich congenital muscular dystrophy (COL6A1/2/3), rigid spine syndrome (SEPN1), LMNA-related CMD, and alpha-dystroglycanopathy (FKTN, FKRP). The CMDs with normal intellectual development are often caused by genetic defects of the extracellular matrix proteins (LAMA2, COL6A1/2/3) or the endoplasmic reticulum (SEPN1). Congenital muscular dystrophies have an estimated prevalence ranging from 0.68-2.5/100,000. Most congenital muscular dystrophies are inherited in an autosomal recessive manner but some subtypes are inherited in an autosomal dominant manner.
Relevant Diseases
  • Congenital Muscular Dystrophies

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
B3GALNT2
B3GNT1
CHKB
COL6A1
COL6A2
COL6A3
DMD
DNM2
DPM1
DPM2
DPM3
FHL1
FKRP
FKTN
GMPPB
ISPD
ITGA7
LAMA2
LARGE
LMNA
POMGNT1
POMGNT2
POMK
POMT1
POMT2
SEPN1
TCAP
TMEM5

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