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Factor V HR2 Allele DNA Mutation Analysis
Test Code17902
CPT Codes
81400<br />
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution A or B (yellow-top) or lithium heparin (green-top)
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze.
For prenatal diagnosis with a fetal specimen:
1) parents must be documented carriers of one of the mutations tested.
2) maternal blood or DNA must be available
3) contact the laboratory genetic counselor before submission.
Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information.
Frozen shipping is acceptable.
For prenatal diagnosis with a fetal specimen:
1) parents must be documented carriers of one of the mutations tested.
2) maternal blood or DNA must be available
3) contact the laboratory genetic counselor before submission.
Extracted DNA: Please call 1-(866)-GENE-INFO or 1-866-436-3463 for additional information.
Frozen shipping is acceptable.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: 30 days
Refrigerated: 8 days
Frozen: 30 days
Methodology
Fluorescent Microshperes • Oligonucleotide Ligation Assay • Polymerase Chain Reaction (PCR)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 7-8 days
Reference Range
See Laboratory Report
Clinical Significance
Factor V HR2 Allele, DNA Mutation Analysis is useful in patients who are carriers of Factor V Mutation (Leiden). Coinheritance of Factor V Mutation (Leiden) is associated with a 3-4-fold increased risk of venous thrombosis compared to inheritance of Factor V Mutation (Leiden) alone.
