Ordering Recommendation

Assess genetic risk for thrombosis.

Mnemonic
FAC 13 MUT
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Mon, Thu

Reported

2-7 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Background Information for Factor XIII (F13A1) V34L Variant:
Characteristics: The Factor XIII (F13A1), V34L sequence variant is a protective factor against pulmonary embolism, deep vein thrombosis, and myocardial infarction in Caucasians.  It may also have a slight protective effect against coronary artery disease. Limited data suggests the V34L sequence variant may also be associated with idiopathic spontaneous subconjunctival hemorrhage (SSH), but this finding has not been confirmed.
Allele Frequency: Caucasian 0.27, African American 0.17, American Indian 0.29, Asian 0.01.
Inheritance: Autosomal dominant.
Cause: Homozygosity or heterozygosity for F13A1; V34L
Variant Tested: F13A1 c.103G>T; p.Val34Leu.
Clinical Sensitivity: Varies by ethnicity.
Methodology: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Mutations in the F13A1 or F13B genes, other than the V34L sequence variant, are not evaluated. Diagnostic errors can occur due to rare sequence variations.
The protective effect of the V34L sequence variant has not been established for ethnicities other than Caucasian and may be altered by other genetic and non-genetic factors not assessed by this assay.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81400

Components
Component Test Code* Component Chart Name LOINC
2003227 Factor XIII (F13A1) V34L Variant
2003228 Factor XIII Variant Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Factor XIII (F13A1) V34L Variant