False negative factor V Leiden assay following allogeneic stem cell transplant.

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.

• 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)

Chemical References

• Protein C
• factor V Leiden
• Factor V
• DNA

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)