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LabAutomation 2006 Abstract
Cystic Fibrosis Carrier Screening Test Performed Using a Microarray Platform Based on Electrochemical Detection of DNA Hybridization
Gary Gust
Osmetech Molecular Diagnostics
Pasadena, CA
USA
gary.gust@osmetech.com

M. Reed
A.M. Aguinaldo
L. Cheung
Y. Liu
J. Bumbarger
D. Wurtz
W.A. Coty


The eSensor® DNA detection technology enables genotyping of multiple genetic disease markers using electrochemical detection of nucleic acid hybridization. Each eSensor cartridge contains an array of gold electrodes, each containing a sequence-specific capture probe covalently linked to the gold surface. Each target nucleic acid is bound to its appropriate electrode through sequence-specific hybridization to its capture probe, and then detected by hybridization of ferrocene-labeled signal probes and interrogation by alternating current voltammetry. Each gold electrode is coated with an insulating monolayer which minimizes non-specific binding and prevents signaling of unbound signal probes, eliminating the need for a wash step prior to detection. A cystic fibrosis (CF) carrier detection test has been developed for the eSensor system, providing multiplex amplification and detection of carriers for the 23 mutations of the CF transmembrane regulator gene recommended by the American College of Medical Genetics. Studies performed at external sites with 486 samples demonstrated an overall concordance of individual mutation calls with DNA sequencing of 99.0%, with a miscall rate of 0.02%.