Why get tested?To help diagnose and sometimes to monitor
porphyrias (a group of inherited disorders involving disturbance in the metabolism of haem, a component of haemoglobin)
When to get tested?If a patient has symptoms that suggest an acute porphyria (such as abdominal pain, tingling in hands or feet, and/or confusion or hallucinations) or a cutaneous porphyria (such as reddening, blistering, or scarring on sun-exposed skin)
Sample required?A blood sample taken from a vein in your arm, a
random urine sample, preferably collected whilst symptoms are occurring, and a small stool sample