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Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis

Test Code

17911

CPT Code(s)

81291

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, AZ, DE, FL, GA, MA, MN, NV, NH, NJ, NM, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen(s)

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

Minimum Volume

3 mL

Alternative Specimen(s)

Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), lithium heparin (green-top) tube, ACD solution A (yellow-top) or ACD solution B (yellow-top) • 100 ng extracted DNA (reference ranges do not apply)

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

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

Methodology

Hybeacons

This test was developed and its performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042

Setup Schedule

Set up: Daily

Limitations

The purpose of this test is to determine if you have two, one, or no copies of either of two mutations in the MTHFR gene, C677T and A1298C.

Reference Range(s)

See Laboratory Report

Alternative Name(s)

MTHFR

LOINC®' Code(s)

The Result and LOINC information listed below should not be used for electronic interface maintenance with Quest Diagnostics. Please contact the Quest Diagnostics Connectivity Help Desk for more information at 800-697-9302.

NOTE: The codes listed in the table below are not orderable Test Codes.

Result
Code
Result NameLOINC CodeComponent Name
85986610METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR), DNA21709-1MTHFR gene mutation analysis

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 guidelines 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.

LOINC assignment is based on a combination of test attributes, including the method used by the performing laboratory. For tests not performed by Quest Diagnostics, codes are assigned by the performing laboratory.

* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.