Porphyrins
Formal name: [Primary tests]; Delta-aminolaevulinic acid (ALA); porphobilinogen (PBG); porphyrins
At a Glance
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
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