False negative factor V Leiden assay following allogeneic stem cell transplant

Kendall P. Crookston; Ruth Henderson; Wayne L. Chandler

doi:10.1046/j.1365-2141.1998.00585.x

False negative factor V Leiden assay following allogeneic stem cell transplant

Kendall P. Crookston, Ruth Henderson, Wayne L. Chandler

Houston Methodist

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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	https://doi.org/10.1046/j.1365-2141.1998.00585.x
State	Published - 1998

Keywords

Activated protein C resistance
Factor V Leiden
Thrombophilia
Thrombosis
Transplantation

ASJC Scopus subject areas

Hematology

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10.1046/j.1365-2141.1998.00585.x

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title = "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 cells transplant several months before, and the leucocytes in her blood were derived from the item cell donor, which lacked the FV defect.",

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AU - Crookston, Kendall P.

AU - Henderson, Ruth

AU - Chandler, Wayne L.

PY - 1998

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N2 - 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.

AB - 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.

KW - Activated protein C resistance

KW - Factor V Leiden

KW - Thrombophilia

KW - Thrombosis

KW - Transplantation

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False negative factor V Leiden assay following allogeneic stem cell transplant

Abstract

Keywords

ASJC Scopus subject areas

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