Porphyria testing: PPOX, CPOX, UROD, HMBS, FECH

Diagnostic Use

Note that (aside from cascade family screening) genotyping is NOT the front line test for porphyria.
Urine PBG is the single most important test to exclude acute porphyria.
Investigation for porphyria requires a full set of samples - blood, urine and faeces protected from the light.

Genotyping for any of the porphyria types should only be considered after good clinical and biochemical phenotyping. It should be possible to target the single most likely affected gene.

If a mutation is identified in a case, cascade family screening of first degree family members should be considered after appropriate counselling and should be focused on the genetic variant that has been identified.

The porphyrias are a group of low penetrance, autosomal dominant disorders which generally present with excessive accumulation and excretion of protoporphyrin. The symptoms are variable but include: severe abdominal pain, chest, legs or back pain, constipation or diarrhea, nausea and vomiting, muscle pain, tingling, numbness, weakness or paralysis, red or brown urine, mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia, breathing problems, urination problems, heart palpitations, hypertension, seizures.

Approximately 75% of affected individuals remain asymptomatic but are at risk if exposed to certain drugs, alcohol or other factors.


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests

Turnaround Time

4 weeks

Test Code