Thrombotic Risk Profile, DNA Analysis

CPT: 81240; 81241; 81291
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Test Details

Test Includes

Factor II, DNA analysis; factor VLeiden mutation analysis; methylenetetrahydrofolate reductase (MTHFR) thermolabile variant, DNA analysis

Use

Evaluation of patients with venous thrombosis

Limitations

This assay detects the R506Q (Leiden) mutation in the factor V gene, the G20210A mutation in the factor II (prothrombin) gene, and the C677T and A1298C mutations in the MTHFR gene.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Polymerase chain reaction (PCR) and gel electrophoresis

Additional Information

See Related Information for individual components of this profile.

Specimen Requirements

Specimen

Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Volume

7 mL whole blood or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature or refrigerate.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
512103 Thrombotic Risk Panel, DNA 511559 Factor V Leiden Mutation 21667-1
512103 Thrombotic Risk Panel, DNA 511218 Factor II, DNA Analysis 24476-4
512103 Thrombotic Risk Panel, DNA 511264 MTHFR, DNA Analysis 21709-1
512103 Thrombotic Risk Panel, DNA 511993 Additional Information: N/A
Reflex Table for Factor V Leiden Mutation
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511991 Comment: 511991 Comment: N/A
Reflex Table for Factor II, DNA Analysis
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511992 Additional Information: 511992 Additional Information: N/A

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf