The Cardiff Porphyria Service specialises in the diagnosis and treatment of all types of acute and cutaneous porphyrias. We provide a comprehensive service for both clinicians and their patients by offering:
• Multidisciplinary clinical advice:
• Routine laboratory diagnosis
• Genetic mutation analysis
Cardiff is one of two nationally designated centres for patients with active acute porphyria and also provides safe drug information and advice in conjunction with the Welsh Medicines Information Service. Cutaneous porphyria patients are seen in the Dermatology Department together with Dr James Powell, Consultant Dermatologist.

Genetic testing is available for all the porphyria genes in conjunction with the All Wales Medical Genomics Service. Both diagnostic services are based in accredited laboratories (UKAS; ISO15189). The service also initiates and participates in research into the porphyrias and has strong collaborative links with our European colleagues.