The most appropriate sample to screen for an acute attack of porphyria, is a random urine sample collected in a universal container and protected from light. This will be analysed for total urine porphyrins and porphobilinogen. Depending on the results we may request additional samples.
Screening for active cutaneous porphyria can be achieved by blood porphyrin screen alone. However, urine and faecal porphyrin analysis may be required to distinguish between certain cutaneous porphyrias and to support subsequent monitoring of treatment. It may therefore be more cost effective to send urine and EDTA blood for frontline testing.
Clinical details are essential to select the most appropriate tests to be done.