Porphyrins (blood, plasma, urine)

Alternative names, keywords

Samples required

Fresh samples when symptoms present. Protect from light, immediate transport to lab.

If querying acute porphyria (acute abdominal pain, vomiting, neurological symptoms, convulsions, hyponatraemia, psychiatric disturbance):

Plain random urine.  Plain 24h urine collection can be analysed if monitoring response to treatment - protect from light during collection.

If querying cutaneous porphyria (skin fragility, blisters, painful photosensitivity):

● EDTA blood (purple cap/ yellow cap ring, 4 mL tube). Smaller tubes are available for paediatric samples.

Plain random urine

If in doubt please send both types of sample. Plasma porphyrins is the primary screen and the urine will usually only be screened if the plasma is positive.

Full clinical details are helpful to enable appropriate investigation of any samples that are referred.

Test indications

Investigation of photosensitive bullous skin rash and/or abdominal pains especially if associated with neurological symptoms.

Test information

Blood and urine samples are screened in-house. _{Please note this test is not currently UKAS accredited.}

Samples with positive results are sent to reference laboratory for further investigation.

Referred to Porphyria Service, Dept of Medical Biochemistry & Immunology, University Hospital of Wales, Heath Park, Cardiff CF14 4XW

Reference range

Interpretation with report.

Turnaround time

24 hours for in-house screen (Monday to Friday).

For referred samples, referral lab quotes a target turnaround time of 7-10 days, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results.

Enquiries

Biochemistry (Special Chemistry)