MNGenome® TRIO Sequencing


Test Details
TEST CODE WGS001
TEST METHODOLOGY Whole Genome Sequencing
TAT (TURNAROUND TIME) 2 - 6 weeks
CPT CODE 81425, 81426 x2
PRICE Call for Details
RECOMMENDED MNG KITS
  • MNGenome®

Order Kit


Clinical Information
Clinical Significance Whole genome sequencing is a novel diagnostic tool used to identify deep intronic regions with known pathogenic variants by sequencing the entire human genome. Approximately 20% of known pathogenic disease causing variants are outside the exon boundaries, which are undetected using exome sequencing. The MNGenome® has the ability to detect mitochondrial depletion, deletion, heteroplasmy, single nucleotide resolution CNV, and repeat expansions. It is a comprehensive approach to a diagnosis of genetic disorders and is the best option to end your patients’ diagnostic odyssey. The MNGenome® can be used if other methods such as WES and CMA failed to provide diagnostic or prognostic insight into a patient’s condition, or suggest a therapeutic approach. MNGenome® will increase the probability of a correct diagnosis and suitable treatment options.

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
Sample Preparation: (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. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (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 (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).


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