Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Lisa EdelmannRobert J Desnick

Abstract

To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H. DNA from 519 individuals originally tested for CF mutation status by allele specific oligonucleotide hybridization (ASOH) were blindly analyzed by the BeadChip assay and the results were compared. The elongation mediated multiplexed analysis of polymorphisms (eMAP) protocol, which combines multiplex amplification of genomic DNA and multiplex detection of mutations on color-coded bead arrays, was used to analyze 26 CF mutations in two separate groups. The system accurately distinguished the 26 CF genotypes and had 100% concordance with the ASOH technique with an assay failure rate of 1.7%. Benign variants of exon 10 codons 506, 507, and 508 did not interfere with mutation identification and reflex testing for the 5/7/9T IVS8 polymorphism was performed on a separate array. The BeadChip assay system provided accurate and rapid identification of the ACMG recommended CF mutations.

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Citations

Jun 17, 2009·Clinical Chemistry and Laboratory Medicine : CCLM·Rolf ApweilerGerd Schmitz
Mar 25, 2011·Journal of Clinical Microbiology·Kazuko MatsudaYuichi Iwaki
Jul 16, 2008·Critical Reviews in Oncology/hematology·Alyona Sukhanova, Igor Nabiev
Jun 27, 2007·The Journal of Molecular Diagnostics : JMD·Monique A JohnsonC Sue Richards
Apr 26, 2005·Transfusion·Ghazala HashmiMarion E Reid
Aug 17, 2016·Transfusion Medicine·C N PortelaS S Weber
Sep 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ruth KornreichRobert J Desnick
Aug 31, 2006·Angewandte Chemie·Robert WilsonDavid G Spiller
Jun 7, 2005·Expert Review of Molecular Diagnostics·Andrew G HaddCindy R WalkerPeach
Jan 15, 2011·Physical Review. E, Statistical, Nonlinear, and Soft Matter Physics·Vera CherepinskyBud Mishra
Aug 31, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sharon J M KesselsTracy L Merlin

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