{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:33:51Z","timestamp":1760150031189,"version":"build-2065373602"},"reference-count":18,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T00:00:00Z","timestamp":1697241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In order to assess the clinical and biological criteria that predict gene panel positivity in patients with a suspected inherited genetic autoinflammatory disease, we conducted a case\u2013control study. These new selection criteria could replace the national multidisciplinary staff approval before performing genetic testing that has been required since 2019. The study involved 119 positive gene panels matched by panel sizes to 119 randomly selected negative gene panels. The patients were referred to our laboratory for genetic testing between June 2012, and March 2023. The clinical and biological criteria were extracted from a prospectively filled database. We focused our evaluation on accuracy and the positive predictive value. Neonatal symptom onset and deafness had the highest accuracies among all criteria associated with the positivity panel, with 92.9% (88.6; 96.0) and 92.6% (88.5; 95.6), respectively. However, it is important to note that the associated Positive Predictive Values (PPVs) cannot exceed 50%. Despite finding a statistical association between clinical and biological criteria and panel positivity, the predictive values of these criteria were not sufficient to recommend Next-Generation Sequencing (NGS) gene panel testing without the national multidisciplinary staff evaluation.<\/jats:p>","DOI":"10.3390\/genes14101939","type":"journal-article","created":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T14:38:42Z","timestamp":1697294322000},"page":"1939","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case\u2013Control Study"],"prefix":"10.3390","volume":"14","author":[{"given":"Lionel","family":"Heiser","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique des Maladies Rares et Autoinflammatoires, Service de G\u00e9n\u00e9tique Mol\u00e9culaire et Cytog\u00e9nomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Universit\u00e9 de Montpellier, 34295 Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Broly","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique des Maladies Rares et Autoinflammatoires, Service de G\u00e9n\u00e9tique Mol\u00e9culaire et Cytog\u00e9nomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Universit\u00e9 de Montpellier, 34295 Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Rittore","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique des Maladies Rares et Autoinflammatoires, Service de G\u00e9n\u00e9tique Mol\u00e9culaire et Cytog\u00e9nomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Universit\u00e9 de Montpellier, 34295 Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5171-1000","authenticated-orcid":false,"given":"Isabelle","family":"Touitou","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique des Maladies Rares et Autoinflammatoires, Service de G\u00e9n\u00e9tique Mol\u00e9culaire et Cytog\u00e9nomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Universit\u00e9 de Montpellier, 34295 Montpellier, France"},{"name":"Stem Cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, 34295 Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Georgin-Lavialle","sequence":"additional","affiliation":[{"name":"Tenon Hospital, Centre de R\u00e9f\u00e9rence des Maladies Auto-Inflammatoires et des Amyloses Inflammatoire (CEREMAIA), Internal Medicine Department, Sorbonne University, AP-HP, 4 rue de la Chine, 75020 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2903-3135","authenticated-orcid":false,"given":"Guilaine","family":"Boursier","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique des Maladies Rares et Autoinflammatoires, Service de G\u00e9n\u00e9tique Mol\u00e9culaire et Cytog\u00e9nomique, National Reference Center for Autoinflammatory Diseases and AA Amyloidosis, Centre Hospitalier Universitaire Montpellier, Universit\u00e9 de Montpellier, 34295 Montpellier, France"},{"name":"Stem Cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, 34295 Montpellier, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"102421","DOI":"10.1016\/j.jaut.2020.102421","article-title":"Systemic autoinflammatory diseases","volume":"109","author":"Krainer","year":"2020","journal-title":"J. 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