Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis

Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis

Test Code

17911
81291
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
17911
81291
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection may be available in your area for purchase through Quest Mobile.

Clinical Significance

Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis - Reduced methylenetetrahydrofolate reductase (MTHFR) enzyme activity is a genetic risk factor for hyperhomocysteinemia, especially when present with low serum folate levels. Two common variants in the MTHFR gene result in reduced enzyme activity. The "thermolabile" variant C677T [NM 005957.3: c.665C>T (p.A222V)] and A1298C [c. 1286A>C (p.E429A)] occur frequently in the general population. Mild to moderate hyperhomocysteinemia has been identified as a risk factor for coronary artery disease and venous thromboembolism. Hyperhomocysteinemia is multifactorial, involving a combination ...

Test Resources

Test FAQ

Methylenetetrahydrofolate Reductase (MTHFR), DNA Analysis

Test Details

Methodology

Polymerase Chain Reaction and Detection

Assay Category

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)

See Laboratory Report

Alternative Name(s)

MTHFR

LOINC® Codes, Performing Laboratory

Service Area must be determined

Methodology

Polymerase Chain Reaction and Detection
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)

See Laboratory Report

Alternative Name(s)

MTHFR
Service Area must be determined

Preferred Specimen(s)

5 mL whole blood collected in an EDTA (lavender-top) tube

Alternative Specimen(s)

Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution A or B (yellow-top) tube, or lithium heparin (green-top) tube

Minimum Volume

3 mL

Collection Instructions

Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information.

Frozen shipping is acceptable.

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

  • Room temperature: 8 days
  • Refrigerated: 8 days
  • Frozen: 30 days

Setup Schedule

Service Area must be determined
5 mL whole blood collected in an EDTA (lavender-top) tube
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution A or B (yellow-top) tube, or lithium heparin (green-top) tube
3 mL
Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information.

Frozen shipping is acceptable.
EDTA (lavender-top) tube
Room temperature
Room temperature: 8 days
Refrigerated: 8 days
Frozen: 30 days
Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection may be available in your area for purchase through Quest Mobile.
Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

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