Test Background The 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).
Clinical Indications Hepatic porphyria: abdominal pain, vomiting, acute neuropathy, seizures and mental disturbances; cardiac arrhythmias and tachycardia may develop as the autonomic nervous system is affected Erythropoietic porphyria: photodermatitis, blisters, necrosis of the skin and gums, itching and increased hair growth
Reference Range See report
Sample Required Faeces protected from light, preferably collect during an attack
Sample Volume 10 g
Transport/Storage Sample must be protected from light at all times.
Turnaround Time Up to 6 weeks
Notes Not currently performed in house; this is a referred test.