3 mL EDTA blood or 2 buccal swabs
Purple-top (EDTA) tube
Frozen specimen; hemolysis; clotted blood specimen; quantity not sufficient for analysis
DNA sequence analysis of the gene designed to detect the mutation in Factor II (FII)
DNA is extracted from sample and subjected to polymerase chain reaction (PCR) amplification. The amplified product is directly sequenced using fluorescent dye-labeled terminator chemistry. Genetic variants are detected by comparison with wild-type gene sequences.
This test detects only the factor II mutation. Increased risk of thrombosis can be caused by a variety of genetic and non-genetic factors not screened for by this assay
Specimen should be kept at room temperature
American college of medical genetics guidelines for clinical genetics laboratories (2006)