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To diagnose a patient with porphyria requires appropriate biochemical investigations, as clinical features alone are not specific enough. Furthermore, it is important to be aware that abnormalities of porphyrin accumulation and excretion occur in many other disorders that are collectively far more common than the porphyrias. In this review, we provide an overview of porphyria\u2010related tests with their strengths and limitations, give recommendations on requesting and diagnostic approaches in non\u2010expert and expert laboratories for different clinical scenarios and discuss the role of genetic testing in the porphyrias. To diagnose porphyria in a currently symptomatic patient requires analysis of biochemical markers to demonstrate typical patterns of haem precursors in urine, faeces and blood. The use of genomic sequencing in diagnostic pathways for porphyrias requires careful consideration, and the demonstration of increased porphyrin\u2010related markers is necessary prior to genomic testing in symptomatic patients. In the acute porphyrias, genomic testing is presently a useful adjunct for genetic counselling of asymptomatic family members and the most common cutaneous porphyria, porphyria cutanea tarda, is usually a sporadic, non\u2010hereditary disease. Getting a correct and timely porphyria diagnosis is essential for delivering appropriate care and ensuring best patient outcome.<\/jats:p>","DOI":"10.1111\/liv.16012","type":"journal-article","created":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T09:01:45Z","timestamp":1719565305000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Practical recommendations for biochemical and genetic diagnosis of the porphyrias"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4167-8398","authenticated-orcid":false,"given":"Aasne K.","family":"Aarsand","sequence":"first","affiliation":[{"name":"Norwegian Porphyria Centre and Department of Medical Biochemistry and Pharmacology Haukeland University Hospital  Bergen Norway"},{"name":"Norwegian Organization for Quality Improvement of Laboratory Examinations (NOKLUS) Haraldsplass Deaconess Hospital  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2644-1213","authenticated-orcid":false,"given":"Jordi","family":"To\u2010Figueras","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics Unit Hospital Clinic\u2010University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Whatley","sequence":"additional","affiliation":[{"name":"Cardiff Porphyria Service, Department of Medical Biochemistry and Immunology University Hospital of Wales Healthcare NHS Trust  Cardiff UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sverre","family":"Sandberg","sequence":"additional","affiliation":[{"name":"Norwegian Porphyria Centre and Department of Medical Biochemistry and Pharmacology Haukeland University Hospital  Bergen Norway"},{"name":"Norwegian Organization for Quality Improvement of Laboratory Examinations (NOKLUS) Haraldsplass Deaconess Hospital  Bergen Norway"},{"name":"Department of Global Public Health and Primary Care, Faculty of Medicine University of Bergen  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry Universit\u00e9 Paris Cit\u00e9 and INSERM U1149, Centre de Recherche sur l'Inflammation  Paris France"},{"name":"French Centre of Porphyrias, Assistance Publique\u2010H\u00f4pitaux de Paris H\u00f4pital Louis Mourier  Colombes France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"key":"e_1_2_13_2_1","volume-title":"Tietz Textbook of Laboratory Medicine","author":"Badminton MN","year":"2022"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23067"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00148.x"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2009.11.017"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1992.tb15114.x"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3181d50928"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.170357"},{"key":"e_1_2_13_9_1","unstructured":"International Porphyria Network Working Group Laboratory.https:\/\/porphyrianet.org\/en\/content\/laboratory\u2010working\u2010group\u2010wg\u2010la. 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