False negative factor V Leiden assay following allogeneic stem cell transplant
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....
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| Veröffentlicht in: | British journal of haematology 1998-03, Vol.100 (3), p.600-602 |
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| container_end_page | 602 |
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| container_title | British journal of haematology |
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| creator | Crookston, Kendall P. Henderson, Ruth Chandler, Wayne L. |
| description | 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. |
| doi_str_mv | 10.1046/j.1365-2141.1998.00585.x |
| format | Article |
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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.</description><identifier>ISSN: 0007-1048</identifier><identifier>EISSN: 1365-2141</identifier><identifier>DOI: 10.1046/j.1365-2141.1998.00585.x</identifier><identifier>PMID: 9504649</identifier><identifier>CODEN: BJHEAL</identifier><language>eng</language><publisher>Oxford, U.K. and Cambridge, USA: Blackwell Publishers</publisher><subject>activated protein C resistance ; Biological and medical sciences ; Blood coagulation ; Blood Protein Disorders - diagnosis ; DNA - analysis ; Factor V - genetics ; factor V Leiden ; False Negative Reactions ; Female ; Genetic Techniques - standards ; Hematopoietic Stem Cell Transplantation ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Leukemia, Myeloid - therapy ; Medical sciences ; Middle Aged ; Mutation ; Polymerase Chain Reaction ; Protein C ; thrombophilia ; thrombosis ; Thrombosis - genetics ; transplantation</subject><ispartof>British journal of haematology, 1998-03, Vol.100 (3), p.600-602</ispartof><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4425-3a683b5195369490f116ef3dbf77357beca54935b143bc8984cfa589f192114e3</citedby><cites>FETCH-LOGICAL-c4425-3a683b5195369490f116ef3dbf77357beca54935b143bc8984cfa589f192114e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1046%2Fj.1365-2141.1998.00585.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1046%2Fj.1365-2141.1998.00585.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,1432,27923,27924,45573,45574,46408,46832</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2164737$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9504649$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Crookston, Kendall P.</creatorcontrib><creatorcontrib>Henderson, Ruth</creatorcontrib><creatorcontrib>Chandler, Wayne L.</creatorcontrib><title>False negative factor V Leiden assay following allogeneic stem cell transplant</title><title>British journal of haematology</title><addtitle>Br J Haematol</addtitle><description>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.</description><subject>activated protein C resistance</subject><subject>Biological and medical sciences</subject><subject>Blood coagulation</subject><subject>Blood Protein Disorders - diagnosis</subject><subject>DNA - analysis</subject><subject>Factor V - genetics</subject><subject>factor V Leiden</subject><subject>False Negative Reactions</subject><subject>Female</subject><subject>Genetic Techniques - standards</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Leukemia, Myeloid - therapy</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Protein C</subject><subject>thrombophilia</subject><subject>thrombosis</subject><subject>Thrombosis - genetics</subject><subject>transplantation</subject><issn>0007-1048</issn><issn>1365-2141</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkMlOwzAQhi0EgrI8ApIPiFuCJ7YTW-ICFasquABXy3HHVao0KXEK9O1xaNUzpxnpX2b0EUKBpcBEfjVPgecyyUBAClqrlDGpZPqzR0Y7YZ-MGGNFEgPqiByHMGcMOJNwSA61jC1Cj8jLva0D0gZntq--kHrr-rajH3SC1RQbakOwa-rbum6_q2ZGbVxm2GDlaOhxQR3WNe0724RlbZv-lBz4ofBsO0_I-_3d2_gxmbw-PI1vJokTIpMJt7nipQQtea6FZh4gR8-npS8KLosSnZVCc1mC4KVTWgnnrVTag84ABPITcrnpXXbt5wpDbxZVGH6xDbarYApdZHkGKhrVxui6NoQOvVl21cJ2awPMDCjN3AzEzEDMDCjNH0rzE6Pn2xurcoHTXXDLLuoXW90GZ2sfIbgq7GwZ5KLgRbRdb2zfVY3rf583t8-PceG_PQqN6Q</recordid><startdate>199803</startdate><enddate>199803</enddate><creator>Crookston, Kendall P.</creator><creator>Henderson, Ruth</creator><creator>Chandler, Wayne L.</creator><general>Blackwell Publishers</general><general>Blackwell</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199803</creationdate><title>False negative factor V Leiden assay following allogeneic stem cell transplant</title><author>Crookston, Kendall P. ; Henderson, Ruth ; Chandler, Wayne L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4425-3a683b5195369490f116ef3dbf77357beca54935b143bc8984cfa589f192114e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>activated protein C resistance</topic><topic>Biological and medical sciences</topic><topic>Blood coagulation</topic><topic>Blood Protein Disorders - diagnosis</topic><topic>DNA - analysis</topic><topic>Factor V - genetics</topic><topic>factor V Leiden</topic><topic>False Negative Reactions</topic><topic>Female</topic><topic>Genetic Techniques - standards</topic><topic>Hematopoietic Stem Cell Transplantation</topic><topic>Humans</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Leukemia, Myeloid - therapy</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Protein C</topic><topic>thrombophilia</topic><topic>thrombosis</topic><topic>Thrombosis - genetics</topic><topic>transplantation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Crookston, Kendall P.</creatorcontrib><creatorcontrib>Henderson, Ruth</creatorcontrib><creatorcontrib>Chandler, Wayne L.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>British journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Crookston, Kendall P.</au><au>Henderson, Ruth</au><au>Chandler, Wayne L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>False negative factor V Leiden assay following allogeneic stem cell transplant</atitle><jtitle>British journal of haematology</jtitle><addtitle>Br J Haematol</addtitle><date>1998-03</date><risdate>1998</risdate><volume>100</volume><issue>3</issue><spage>600</spage><epage>602</epage><pages>600-602</pages><issn>0007-1048</issn><eissn>1365-2141</eissn><coden>BJHEAL</coden><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.</abstract><cop>Oxford, U.K. and Cambridge, USA</cop><pub>Blackwell Publishers</pub><pmid>9504649</pmid><doi>10.1046/j.1365-2141.1998.00585.x</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | British journal of haematology, 1998-03, Vol.100 (3), p.600-602 |
| issn | 0007-1048 1365-2141 |
| language | eng |
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| source | MEDLINE; Wiley Free Content; EZB-FREE-00999 freely available EZB journals; Wiley Online Library All Journals |
| subjects | activated protein C resistance Biological and medical sciences Blood coagulation Blood Protein Disorders - diagnosis DNA - analysis Factor V - genetics factor V Leiden False Negative Reactions Female Genetic Techniques - standards Hematopoietic Stem Cell Transplantation Humans Investigative techniques, diagnostic techniques (general aspects) Leukemia, Myeloid - therapy Medical sciences Middle Aged Mutation Polymerase Chain Reaction Protein C thrombophilia thrombosis Thrombosis - genetics transplantation |
| title | False negative factor V Leiden assay following allogeneic stem cell transplant |
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