CFTR

WES in FUO

What is FUO? FUO is acronym for Fever of Unknown Origin. FUO has been first defined by Petersdorf and Beeson in 1961 as a fever lasting more than 3 weeks, with a temperature over 38.3 °C on several occasions. FUO still represents a challlenge for Diagnostics in several clinical cases. Apart from infective, autoimmune and

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Cystic fibrosis and CFTR-related disorders

Recommended panel testing at Breda Genetics for this condition: Cystic fibrosis and its differential diagnosis (ARMC4, C21ORF59, CA12, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP300, CFTR, DNAAF1, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, HYDIN, IL2RG, KTU, LRRC6, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCNN1A, SCNN1B, SCNN1G, SPAG1, TAP1, TAP2,

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Transposons

Mobile elements Transposons are mobile DNA elements which inserted themselves into the human genome during the evolution. So it is common to refer to them as transposon insertions. Transposons arise from RNA-based or DNA-based mechanisms and are therefore categorized in two classes: retrotransposons and DNA transposons. Retrotransposons Retrotransposons are fragments of cDNA which are transcribed from RNA

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