We report a case where a phenotypic test (an activity assay for activated protein C resistance) correctly indicated that the patient had an abnormality, whereas the initial genetic test (a PCR-based DNA-assay used to detect the mutation in the FV gene) incorrectly indicated that the patient did not. The apparent false negative result of the DNA-based test was due to the use of peripheral blood leucocytes for DNA analysis. The patient had undergone a stem cells transplant several months before, and the leucocytes in her blood were derived from the item cell donor, which lacked the FV defect.
- Activated protein C resistance
- Factor V Leiden
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