Abstract
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.
Original language | English (US) |
---|---|
Pages (from-to) | 600-602 |
Number of pages | 3 |
Journal | British Journal of Haematology |
Volume | 100 |
Issue number | 3 |
DOIs | |
State | Published - 1998 |
Keywords
- Activated protein C resistance
- Factor V Leiden
- Thrombophilia
- Thrombosis
- Transplantation
ASJC Scopus subject areas
- Hematology