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Although some tools are available to identify undiagnosed patients, new comprehensive screening methods are needed. In this study, the outcomes of the cascade screening applied to three index cases with FD from 2 familes were investigated. In the pedigree analysis, 280 individuals were included; out of them, 131 individuals underwent genetic testing and cascade screening for FD. During the screening program, a total of 45 individuals were diagnosed, with a diagnostic ratio of 1:15. The average age at diagnosis for all individuals was 30.9\u2009\u00b1\u200917.7\u2009years, and %25 were pediatric cases (mean age 9.5\u2009\u00b1\u20095.9\u2009years). Thirty affected relatives were diagnosed from the\u00a0two index cases in Family 1 and 15 individuals were diagnosed\u00a0from one index case in Family 2. There were 13 consanguineous marriages observed among 2 pedigres, in two both spouses \u00a0were affected, leading to two homozygous affected daughters in one couple. In regions where there is a high prevalence of consanguineous marriages, implementing the cascade screening approach to identify all individuals at risk can be beneficial for patients with FD, specifically women and children.<\/jats:p>","DOI":"10.1002\/ajmg.a.63552","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T10:38:18Z","timestamp":1708339098000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6481-3172","authenticated-orcid":false,"given":"Pelin Teke","family":"Kisa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Inherited Metabolic Diseases Dokuz Eylul University Faculty of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu Ozturk","family":"Hismi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Inherited Metabolic Diseases Marmara University Faculty of Medicine  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9565-6907","authenticated-orcid":false,"given":"Mehmet","family":"Kocabey","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Dokuz Eylul University Faculty of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zumrut Arslan","family":"Gulten","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Inherited Metabolic Diseases Dokuz Eylul University Faculty of Medicine  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bulent","family":"Huddam","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Department of Internal Medicine Mugla Sitki Kocman University, Faculty of Medicine  Mugla Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selim","family":"Ekinci","sequence":"additional","affiliation":[{"name":"Department of Cardiology Health Sciences University Izmir Tepecik Education and Research Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evrim","family":"Bozkaya","sequence":"additional","affiliation":[{"name":"Department of Nephrology Denizli State Hospital  Denizli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harun","family":"Akar","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Health Sciences University Izmir Tepecik Education and Research Hospital  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozge K. 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