|
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Factor VII R353Q Mutation Analysis
Test Code16180
CPT Codes
81400
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
ACD solution A or B (yellow-top) tube • Lithium heparin (green-top) tube • Sodium heparin (green-top) tube
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Do not freeze
Refrigerated: 8 days
Frozen: Do not freeze
Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Thurs; Report available: 8 days
Reference Range
See Laboratory Report
Clinical Significance
Factor VII is a serine protease found in plasma and is one of the vitamin K-dependent coagulation factors, along with prothrombin (factor II), factors IX and X, and proteins C and S. Factor VII is synthesized principally in the liver and is secreted as a single-chain glycoprotein of apparent M, 48,000. Cleavage of human factor VII to factor VIIa, a two-chain form held together by disulfide bonds, results in a 20-to 25-fold increase in enzyme activity. This cleavage can be affected by a number of activated coagulation factors, including factors XIIa, Xa, IXa, and thrombin. In the presence of tissue factor and calcium ions, factor VIIa converts factor X to factor Xa in the initiating reaction of the extrinsic coagulation pathway. The R353Q allele may confer protection against thrombosis.