A universal array-based multiplexed test for cystic fibrosis carrier screening. 2006

Jean A Amos, and Philippa Bridge-Cook, and Victor Ponek, and Michael R Jarvis
Focus Diagnostics, 10703 Progress Way, Cypress, CA 90630, USA. jamoswilson@focusdx.com

Cystic fibrosis is a multisystem autosomal recessive disorder with high carrier frequencies in caucasians and significant, but lower, carrier frequencies in other ethnicities. Based on technology that allows high detection of mutations in caucasians and significant detection in other ethnic groups, the American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) have recommended pan-ethnic cystic fibrosis carrier screening for all reproductive couples. This paper discusses carrier screening using the Tag-It multiplex mutation platform and the Cystic Fibrosis Mutation Detection Kit. The Tag-It cystic fibrosis assay is a multiplexed genotyping assay that detects a panel of 40 cystic fibrosis transmembrane conductance regulator mutations including the 23 mutations recommended by the ACMG and ACOG for population screening. A total of 16 additional mutations detected by the Tag-It cystic fibrosis assay may also be common. The assay method is described in detail, and its performance in a genetics reference laboratory performing high-volume cystic fibrosis carrier screening is assessed.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002462 Cell Membrane The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells. Plasma Membrane,Cytoplasmic Membrane,Cell Membranes,Cytoplasmic Membranes,Membrane, Cell,Membrane, Cytoplasmic,Membrane, Plasma,Membranes, Cell,Membranes, Cytoplasmic,Membranes, Plasma,Plasma Membranes
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D046228 Microarray Analysis The simultaneous analysis, on a microchip, of multiple samples or targets arranged in an array format. Microarray Analytical Devices,Microarray Microchips,Nanoarray Analytical Devices,Analysis, Microarray,Analytical Device, Microarray,Analytical Device, Nanoarray,Analytical Devices, Microarray,Analytical Devices, Nanoarray,Device, Microarray Analytical,Device, Nanoarray Analytical,Devices, Microarray Analytical,Devices, Nanoarray Analytical,Microarray Analytical Device,Microarray Microchip,Microchip, Microarray,Microchips, Microarray,Nanoarray Analytical Device
D025202 Molecular Diagnostic Techniques MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Molecular Testing,Molecular Diagnostic Technics,Molecular Diagnostic Testing,Diagnostic Technic, Molecular,Diagnostic Technics, Molecular,Diagnostic Technique, Molecular,Diagnostic Techniques, Molecular,Diagnostic Testing, Molecular,Molecular Diagnostic Technic,Molecular Diagnostic Technique,Technic, Molecular Diagnostic,Technics, Molecular Diagnostic,Technique, Molecular Diagnostic,Techniques, Molecular Diagnostic,Testing, Molecular,Testing, Molecular Diagnostic

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