Test BackgroundThe porphyrias are inherited or acquired disorders of certain enzymes in the haem biosynthetic pathway that is responsible for the synthesis of haemoglobin, myoglobin and cytochrome. They are broadly classified as hepatic porphyrias or erythropoietic porphyrias based on the site of their overproduction and subsequent accumulation (or their chemical precursors).
Sample Required EDTA (lavender top) or heparin (green top) protected from light, preferably collect during an attack
Sample Volume 5 mL whole blood
Turnaround Time Up to 6 weeks
NotesNot currently performed in house; this is a referred test.
Haemolysed samples are unsuitable for analysis. Separation of cells from serum makes this less likely if there is a delay in sending the sample to the referral centre.