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 cell transplant several months before, and the leucocytes in her blood were derived from the stem cell donor, which lacked the FV defect.
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Authors | K P Crookston, R Henderson, W L Chandler |
Journal | British journal of haematology
(Br J Haematol)
Vol. 100
Issue 3
Pg. 600-2
(Mar 1998)
ISSN: 0007-1048 [Print] England |
PMID | 9504649
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Protein C
- factor V Leiden
- Factor V
- DNA
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Topics |
- Blood Protein Disorders
(diagnosis)
- DNA
(analysis)
- Factor V
(genetics)
- False Negative Reactions
- Female
- Genetic Techniques
(standards)
- Hematopoietic Stem Cell Transplantation
- Humans
- Leukemia, Myeloid
(therapy)
- Middle Aged
- Mutation
- Polymerase Chain Reaction
- Protein C
- Thrombosis
(genetics)
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