MTHFR DNA Mutation Analysis Test
The MTHFR DNA Mutation Analysis test analyzes a blood sample for two common variants in the MTHFR gene, C677T and A1298C. Quest describes these variants as associated with reduced MTHFR enzyme activity, which is implicated in elevated homocysteine when combined with low folate levels.
About this test
The MTHFR gene provides instructions for an enzyme involved in processing folate. Quest describes this test as measuring the presence of two common variants, C677T and A1298C, that are associated with reduced activity of that enzyme.
The sample is analyzed using polymerase chain reaction and detection methods to identify these gene variants. Quest describes the reduced enzyme activity linked to these variants as implicated in hyperhomocysteinemia specifically when it occurs alongside low folate levels, so the variant result is one factor among others rather than a standalone finding.
Test details
| Quest code | 17911 |
|---|---|
| Methodology | Polymerase Chain Reaction and Detection |
| Sample type | 5 mL whole blood |
| Collection | Quest patient service center |
Related tests and panels
Quest resources
Additional details
What this test looks at
The test reports on two specific MTHFR gene variants, C677T and A1298C, and provides an interpretation of the findings. Quest lists the alias MTHFR for this test.
Because the reduced enzyme activity linked to these variants is implicated in elevated homocysteine only when it occurs alongside low folate levels, the variant result is read together with other factors rather than as a standalone finding, and it is the ordering clinician who interprets it in that context.
Order online and a physician order is included — no doctor's visit and no insurance needed. Your sample is collected at a Quest Diagnostics patient service center.
Laboratory results should always be interpreted by a licensed clinician who knows your health history. This page is information about a test, not medical advice.
Frequently asked questions
What does the MTHFR DNA Mutation Analysis test measure?
It analyzes a blood sample for two common variants in the MTHFR gene, C677T and A1298C, using polymerase chain reaction and detection methods.
How is the sample collected?
The test uses a whole blood sample from a routine blood draw.
Do I need to prepare for this test?
No preparation instructions are listed for this test, though people follow any instructions their ordering clinician provides.
What do the MTHFR variants relate to?
Quest describes the C677T and A1298C variants as associated with reduced MTHFR enzyme activity, which is implicated in elevated homocysteine when combined with low folate levels.
How much is a MTHFR test?
$385, paid once at checkout. The price includes the physician's order this test requires and sample collection at a Quest patient service center.