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Molecular diagnostic testing is powerful and very useful in kindred evaluation and genetic counselling when a disease\u2010responsible mutation has been identified in the family. It is also the only way to properly screen asymptomatic gene carriers, facilitating correct treatment and appropriate genetic counselling of family members at risk. However, it should be noted that DNA\u2010based testing is for the diagnosis of the gene carrier status, but not for the diagnosis of clinical syndrome or severity of the disease, e.g. an acute attack. For the diagnosis of clinically expressed porphyrias, a logical stepwise approach including the analysis of porphyrins and their precursors should not be underestimated, as it is still very useful, and is often the best from the cost\u2010effective point of view.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.06289.x","type":"journal-article","created":{"date-parts":[[2006,9,4]],"date-time":"2006-09-04T14:59:16Z","timestamp":1157381956000},"page":"281-292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":142,"title":["Modern diagnosis and management of the porphyrias"],"prefix":"10.1111","volume":"135","author":[{"given":"Shigeru","family":"Sassa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,9,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.060772"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"3618","DOI":"10.1182\/blood.V96.10.3618.h8003618_3618_3623","article-title":"Molecular analysis of \u03b4\u2010aminolevulinate dehydratase deficiency in a patient with an unusual late\u2010onset porphyria","volume":"96","author":"Akagi R.","year":"2000","journal-title":"Blood"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.10.011"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1001\/archinte.1990.00390190115018","article-title":"A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria","volume":"150","author":"Anderson K.E.","year":"1990","journal-title":"Archives of Internal Medicine"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199002013220507"},{"key":"e_1_2_7_7_1","first-page":"2991","volume-title":"The Metabolic & Molecular Bases of Inherited Disease","author":"Anderson K.E.","year":"2001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-144-7-200604040-00023"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/285017a0"},{"key":"e_1_2_7_10_1","first-page":"841","article-title":"Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5\u2010aminolevulinic acid","volume":"29","author":"Bechara E.J.","year":"1996","journal-title":"Brazilian Journal of Medical & Biological Research"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0773.1997.tb02061.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/502667"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510270627"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/280514a0"},{"key":"e_1_2_7_15_1","first-page":"229","article-title":"Hereditary coproporphyria. 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