Samples should be collected during symptomatic periods because levels may fall when symptoms resolve. While a random (spot) urine test is key to confirming a diagnosis, a genetic test can also be performed to differentiate which type of AHP a patient may have.1,3,4
WHERE TO TEST FOR AHP
Requests should be discussed in advance with the local biochemistry department who can advise on preferred porphyrin laboratory requirements. For specialised clinical and diagnostic advice consult the National Acute Porphyria Service.
Cardiff Porphyria Service
Department of Medical Biochemistry & Immunology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW
Telephone Number (Porphyrin laboratory): 029 2074 3565
King's College Hospital Porphyria Service
Porphyrin Section, Reference Biochemistry, Department of Clinical Biochemistry, Viapath
King's College Hospital, London, SE5 9RS
Telephone Number (Porphyrin laboratory): 020 3299 3856
Centre Français des Porphyries
The Centre de Référence Maladies Rares Porphyries / Centre Français des Porphyries (CFP) is there to help you in the management of the disease: https://www.porphyrie.net/
Un médecin du CFP est joignable 24h/24 au +33 (0)22.214.171.124.31 pour les URGENCES.
Genetic testing can detect certain genetic mutations in patients, and help doctors provide a more accurate diagnosis.
Access the Genilam service for acute hepatic porphyria