title: Clinical genetic testing of periodic fever syndromes.
abstract: Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.
authors.affiliation: Laboratory of Immunopathology, Institute for Maternal and Child Health (IRCCS) "Burlo Garofolo", 34137 Trieste, Italy. marcuzzi@burlo.trieste.it
authors.forename: Annalisa
authors.initials: A
authors.lastname: Marcuzzi
authors.forename: Elisa
authors.initials: E
authors.lastname: Piscianz
authors.forename: Giulio
authors.initials: G
authors.lastname: Kleiner
authors.forename: Alberto
authors.initials: A
authors.lastname: Tommasini
authors.forename: Giovanni Maria
authors.initials: GM
authors.lastname: Severini
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Monasta
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D003937:Diagnosis, Differential; D005334:Fever / Q000175:diagnosis / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D013577:Syndrome