Porphyrin Investigation
(a.k.a Porphyria Screen)
Test Code: TPR
Special instructions
Samples MUST be protected from light.
Please complete and send clinical details form (link below) with samples.
Sample type
EDTA whole blood, urine and faeces may be required depending on clinical details and symptoms. Please discuss with biochemistry duty clinician before requesting (ext 4050).
Reference range
Faecal porphyrin: <200 nmol/g
Porphyrin/creatinine ratio in urine: <40 nmol/mmol
Red blood cell total porphyrin: 0.4 - 1.7 µmol/L
Sent away
to University Hospital of Wales, Cardiff
Contact Laboratory before requesting
Turnaround Time
15
days
Department: Biochemistry
Clinical Application
Porphyrias are inherited or acquired disorders in the haem biosynthetic pathway. Blocks in the pathway are accompanied by excess excretion of porphyrin or porphyrin precursors. The two main groups of porphyrias are classified as acute and non-acute. Life threatening porphyric attacks can be seen in acute porphyrias.