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MTHFR
Test Code511238
CPT Codes
81291
Preferred Specimen
"Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
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Minimum Volume
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7 mL whole blood or LabCorp buccal swab kit
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7 mL whole blood or LabCorp buccal swab kit
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Transport Container
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Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit
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Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit
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Transport Temperature
"Maintain specimen at room temperature or refrigerate
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
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Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
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Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
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Methodology
"Polymerase chain reaction (PCR) and restriction enzyme analysis "
Limitations
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This assay detects only the C677T and A1298C mutations in the MTHFR gene. The diagnosis of hyperhomocysteinemia cannot rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels. Prenatal testing is not available.
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This assay detects only the C677T and A1298C mutations in the MTHFR gene. The diagnosis of hyperhomocysteinemia cannot rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels. Prenatal testing is not available.
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