Abstract
SERPING1 genotyping of subjects suspicious for hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) is important for clinical practice as well as for research reasons. Conventional approaches towards the detection of C1-INH-HAE-associated SERPING1 variants are cumbersome and time-demanding with many pitfalls. To take advantage of the benefits of next-generation sequencing (NGS) technology, we developed and validated a custom NGS platform that, by targeting the entire SERPING1 gene, facilitates genetic testing of C1-INH-HAE patients in clinical practice. In total, 135 different C1-INH-HAE-associated SERPING1 variants, out of the approximately 450 reported, along with 115 negative controls and 95 randomly selected DNA samples from affected family members of C1-INH-HAE index patients, were included in the forward and reverse validation processes of this platform. Our platform's performance, i.e. analytical sensitivity of 98.96%, a false negative rate of 1.05%, analytical specificity 100%, a false positive rate equal to zero, accuracy of 99.35%, and repeatability of 100% recommends its implementation as a first line approach for the genetic testing of C1-INH-HAE patients or as a confirmatory method. A noteworthy advantage of...Continue Reading
Citations
Sep 14, 2019·Human Mutation·Denise PonardChristian Drouet
Feb 20, 2020·Current Opinion in Allergy and Clinical Immunology·Camila Lopes Veronez, Anete Sevciovic Grumach
Mar 30, 2019·Case Reports in Genetics·Wai-Yu WongEric Chan
Nov 9, 2019·Journal of Molecular Neuroscience : MN·Georgia XiromerisiouGeorgios M Hadjigeorgiou
Nov 28, 2018·Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology·Xavier Charest-MorinChristian Drouet
Oct 10, 2020·Journal of Medical Internet Research·Alejandro Mendoza-AlvarezCarlos Flores
Oct 10, 2020·Journal of Clinical Immunology·Anastasios E GermenisHenriette Farkas
Aug 14, 2019·Journal of Autoimmunity·Anastasios E Germenis, Marco Cicardi
Nov 2, 2019·The Journal of Allergy and Clinical Immunology. in Practice·Anastasios E GermenisUNKNOWN Hereditary Angioedema International Working Group
Jan 29, 2021·Clinical Reviews in Allergy & Immunology·Anastasios E GermenisCamila Lopes Veronez
Oct 31, 2020·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Marc A RiedlRichard Gower
Dec 11, 2020·Molecular Biology Reports·Chrysoula MarogianniGeorgia Xiromerisiou
Jun 28, 2019·The Journal of Allergy and Clinical Immunology·Rachel L MillerAleena Banerji
Jun 3, 2021·Journal of Clinical Medicine·Rosa SantacroceMaria d'Apolito
Jun 6, 2019·Dermatology : International Journal for Clinical and Investigative Dermatology·Anette Bygum