Blood: Draw blood in a lavender top EDTA tube, Sample Stability: 5-7 days, Preferred volume: 4 ml, Minimum volume: 2 ml, DO NOT FREEZE. Extracted DNA: From leukocytes, muscle, or fibroblasts: Preferred quantity: 1 microgram, Minimum quantity: 800 nanograms. Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0. Cultured Fibroblasts: Two T-25 flasks of fibroblasts, preferably ~90% confluent. TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. Buccal Cells: One buccal swab should be used for collection. Do not discard solution in collection tube. Follow collection instructions supplied. Stability at ambient temperature is 60 days.
Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: 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 (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature.
Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice
Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection
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.