MNG Carrier Exome™

Test Details
TEST METHODOLOGY Whole Exome Sequencing
CPT CODE 81479
PRICE $3400
  • TRIO Blood Genetic Testing

Order Kit

Clinical Information
Clinical Significance MNG Carrier Exome™ is a novel, complete approach to determine carrier status for recessive disorders in prospective parents. This comprehensive test is designed to detect rare, family or sub-population specific variants that could have a deleterious effect in offspring. Rather than focusing solely on known pathogenic variants that are common in well characterized populations, the MNG Carrier Exome™ provides a wider range of coverage for those seeking a more thorough review versus standard carrier screening tests. Whole exome sequencing is performed on both partners in order to detect shared known pathogenic and predicted disruptive variants in genes that are causative of autosomal recessive disorders. A single report will be generated containing the known pathogenic and predicted disruptive variants in genes that are predicted to be disrupted in both future parents. The exception to this rule is pathogenic mutations in certain sex chromosome encoded genes, or genes that are silenced based on parental origin. The reason for this exception is that in such cases the offspring can still manifest serious symptoms even if only one of the healthy future parents carries the mutation. . This test is intended for prospective parents who are interested in the most comprehensive review of their genetic background to better understand their risk of having children with rare autosomal recessive disorders. It is not recommended for diagnostic purposes.
Relevant Diseases
  • Various

Specimen Information
Acceptable Sample Types
  • 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. Cell culture media may be requested from MNG
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 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.

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