title: Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel.
abstract: The American College of Medical Genetics (ACMG) and the American College of Obstetrics and Gynecology have recommended population-based carrier screening for cystic fibrosis to include 23 mutations and 5 polymorphisms in the cystic fibrosis transmembrane regulator gene(CFTR). We estimate 20% of all pregnant women are being tested for their CF carrier status. We assessed two commercially available analyte-specific reagents (ASRs) capable of testing all 25 mutations of the original ACMG-recommended panel, Tag-It CFTR40 + 4 Luminex-based reagent from Tm Biosciences, and our current assay platform, CF Genotyper V. 3.0 from Abbott/Celera. Blinded testing using genomic controls containing known CFTRmutations demonstrated that the Tag-It platform detected all mutations on the ACMG-recommended panel. We next performed a platform comparison with 1,029 consecutive patient samples. There were no discrepant results in 1,029 consecutive analyses between the two platforms, yielding an impressive figure of >25,000 individual genotypes without error for both platforms. In conclusion, both the Abbott/Celera ASR reagent and the Luminex-based Tag-It CF ASR reagent are appropriate for use in the clinical laboratory.
authors.affiliation: Genetic Testing Center, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA. charles.m.strom@questdiagnostics.com
authors.forename: Charles M
authors.initials: CM
authors.lastname: Strom
authors.forename: Richard
authors.initials: R
authors.lastname: Janeszco
authors.forename: Franklin
authors.initials: F
authors.lastname: Quan
authors.forename: Sheng-biao
authors.initials: SB
authors.lastname: Wang
authors.forename: Arlene
authors.initials: A
authors.lastname: Buller
authors.forename: Matthew
authors.initials: M
authors.lastname: McGinniss
authors.forename: Weimin
authors.initials: W
authors.lastname: Sun
mesh_terms: D000483:Alleles; D001331:Automation; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005820:Genetic Testing / Q000379:methods / Q000458:organization & administration*; D006287:Health Planning Guidelines; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards*; D011110:Polymorphism, Genetic; D012680:Sensitivity and Specificity