title: Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.
abstract: A 23-mutation panel for CFTR carrier screening is recommended to women of reproductive age by the American College of Obstetricians and Gynecologists. In the present study the optimized efficiency regarding the carrier rate of Next-Generation sequencing (NGS) technology is compared to the one of limited mutation detection panels. A total of 824 consequent cases were subjected to the commercial Cystic Fibrosis Genotyping Assay. Some 188 negative samples randomly selected from the initial group of probands were further subjected to an extended mutation panel characterized by 92% detection rate, as well as to massive parallel sequencing. Twenty-two probands subjected to the commercial assay proved to carry one mutation included in the ACOG panel (carrier rate 0.0267). The latter panels revealed the presence of mutations not included in the ACOG panel in four probands, resulting to an increase of carrier rate of 0.0106 in the case of in-house panel and an increase of rate of 0.0213 if NGS was used. The above data seem to support the implementation of NGS in the routine CFTR carrier screening.
authors: Department of Pharmaceutical Chemistry, Faculty of Pharmacy, University of Athens , Athens.
authors: Yannis L
authors: YL
authors: Loukas
authors: Georgia
authors: G
authors: Thodi
authors: Elina
authors: E
authors: Molou
authors: Vassiliki
authors: V
authors: Georgiou
authors: Yannis
authors: Y
authors: Dotsikas
authors: Kleopatra H
authors: KH
authors: Schulpis
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation / Q000235:genetics; D012016:Reference Values; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: ACOG panel; CFTR gene; MiSeq; Next-Generation sequencing; carrier screening