Factor XIII (F13A1) V34L Variant
2003220
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
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K3EDTA), 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.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81400
Components
Component Test Code*Component Chart Name
2003227Factor XIII (F13A1) V34L Variant
2003228Factor 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