Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency

• Published in: Gene Vol. 667; pp. 76 - 82
• Main Authors: Loules, Gedeon, Zamanakou, Maria, Parsopoulou, Faidra, Vatsiou, Sofia, Psarros, Fotis, Csuka, Dorottya, Porebski, Grzegorz, Obtulowicz, Krystyna, Valerieva, Anna, Staevska, Maria, López-Lera, Alberto, López-Trascasa, Margarita, Moldovan, Dumitru, Magerl, Markus, Maurer, Marcus, Speletas, Matthaios, Farkas, Henriette, Germenis, Anastasios E.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.08.2018
• Subjects: analytical specificity; Copy number variation; detection limit; DNA; genes; genetic testing; genotyping; high-throughput nucleotide sequencing; Novel SERPING1 mutations; patients; SERPING1 gene; C1-INH-HAE; Copy number variation; MLPA; CI; SERPING1-NGS platform; U-HAE; C1-INH; CNV; SNV; Novel SERPING1 mutations; NGS; SERPING1 gene

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 wi...