Evaluation of the Cepheid GeneXpert BCR-ABL assay

Zsolt Jobbagy, Reuel van Atta, Kathleen M. Murphy, James Eshleman, Christopher Gocke

Research output: Contribution to journalArticle

Abstract

Patients with chronic myeloid leukemia harbor the chromosomal translocation t(9;22), which corresponds to fusion of the BCR and ABL genes at the DNA level. The translated fusion product is an oncogenic protein with increased ABL tyrosine kinase activity causing cell transformation. To date, reverse transcriptase-polymerase chain reaction is considered the most sensitive method available for detecting low copy numbers of the BCR-ABL gene fusion. Recently, Cepheid introduced its GeneXpert-based assay for the identification of the BCR-ABL gene fusion in cells from blood samples. This system comprises a walkaway self-contained instrument that combines cartridge-based microfluidic sample preparation with reverse transcriptase-polymerase chain reaction-based fluorescent signal detection and BCR-ABL and ABL Ct (threshold cycle) determination. The difference between the BCR-ABL Ct and ABL Ct (ΔCt) is expected to represent the ratio of the two populations of mRNAs and ultimately the percentage of neoplastic cells present. We tested whether this BCR-ABL fusion detection system could be used as a clinical diagnostic tool for monitoring patients with minimal residual disease of chronic myelogenous leukemia. We report similar performance characteristics, including limit of detection, specificity, sensitivity, and precision, of this automated BCR-ABL fusion detection system to those of a manual TaqMan reverse transcriptase-polymerase chain reaction-based test.

Original languageEnglish (US)
Pages (from-to)220-227
Number of pages8
JournalJournal of Molecular Diagnostics
Volume9
Issue number2
DOIs
StatePublished - Apr 2007

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Reverse Transcriptase Polymerase Chain Reaction
Gene Fusion
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Genetic Translocation
Microfluidics
Residual Neoplasm
Physiologic Monitoring
Protein-Tyrosine Kinases
Limit of Detection
Blood Cells
Sensitivity and Specificity
Messenger RNA
DNA
Population
Genes
Proteins

ASJC Scopus subject areas

  • Molecular Biology

Cite this

Evaluation of the Cepheid GeneXpert BCR-ABL assay. / Jobbagy, Zsolt; van Atta, Reuel; Murphy, Kathleen M.; Eshleman, James; Gocke, Christopher.

In: Journal of Molecular Diagnostics, Vol. 9, No. 2, 04.2007, p. 220-227.

Research output: Contribution to journalArticle

Jobbagy, Zsolt ; van Atta, Reuel ; Murphy, Kathleen M. ; Eshleman, James ; Gocke, Christopher. / Evaluation of the Cepheid GeneXpert BCR-ABL assay. In: Journal of Molecular Diagnostics. 2007 ; Vol. 9, No. 2. pp. 220-227.
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