Test Code: MGX020
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a common inborn error of folate metabolism leading to serious conditions such as homocystinuria, anencephaly, spina bifida, and others. The MTHFR enzyme is critical for metabolizing one form of B vitamin, folate, into another. It is also part of the process that converts homocysteine into methionine, an important building block for many proteins.
This test screens the DNA for two MTHFR variants commonly known as C677T and A1298C. These two variants are associated with decreased MTHFR activity and increased homocysteine levels in the blood, which may increase the risk of premature cardiovascular disease (CVD), formation of inappropriate blood clots (thrombosis), and stroke.
Capillary Electrophoresis (Sanger) DNA Sequencing
Peripheral Blood
Requirements: Collect 3 ml – 5 ml of whole blood in EDTA (purple top tube), minimum 1 ml for small infants.
Shipping: DO NOT FREEZE. Include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube. At room temperature, a blood specimen is stable for up to 48 hours. If refrigerated, a blood specimen is stable for up to one week.
Dried Blood Spot (DBS)
Requirements: Send 4 or more completely filled spots, each 10 mm in diameter. DBS cards should dry at room temperature for at least 3 hours after collection. DNA from DBS cards has inconsistent quantity and quality, which may result in delayed testing and/or the need for a second specimen.
Shipping: Send specimens at room temperature and after drying.
DNA
Requirements: Send in a screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 100 ng/uL, minimum 2 µg for limited specimens. Indicate concentration on tube label. For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible. DNA quality should be measured at A260/280 and be >1.8 for the sample to be acceptable for processing
Extracted DNA samples can only be accepted from CAP-accredited or equivalent facilities.
Shipping: Specimens may be shipped at room temperature. Label the tube with the composition of the solute and DNA concentration along with the patient’s name, date of birth, and/or ID number. DNA must be extracted using a column-based purification technique.
BUCCAL SWABS
Requirements: Buccal Swab should be used according to manufacturer instructions.
Shipping: Specimens may be shipped at room temperature.
- Standard (2-3 weeks)
- Urgent (1 week)
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