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Background:

Diagnosis and monitoring of porphyria

All samples must be protected from the light.

Please provide full clinical details, in particular whether the patient is presenting with acute symptoms, cutaneous symptoms, or photosensitivity. This helps to direct investigations appropriately.

For investigation of acute porphyria, please send a urine sample only (10 - 20 mL, plain universal), which will be analysed for porphobilinogen in-house, then referred for further testing. Ideally, the sample should be taken during an attack.

For investigation of cutaneous/photosensitive porphyria, please send a urine sample and an EDTA blood sample. Faecal samples are not required in the first instance, but may be requested for confirmation of porphyria.

Other Comments:

Analysed at Cardiff Porphyria Service, Department of Medical Biochemistry & Immunology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW

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Interpretive comments will be provided by the referral laboratory.

For more information, please see the following: Porphyrins - Lab Tests Online