Fractionated urine porphyrins

Description: Fractionated urine porphyrins is a test offered by the SAS Porphyria Laboratory in Reference Chemistry at the Synnovis Hub laboratory in Blackfriars. It is used in the investigation of the porphyrias and only performed following a positive total urine porphyrin screen test or other positive porphyrin investigations. Quantitative measurement of porphyrins and their isomers is carried out using high-performance liquid chromatography (HPLC) followed by fluorescence detection.

Clinical details: Porphyrins are intermediates in the haem biosynthesis pathway. Semi-quantitative measurement of total urinary porphyrins is recommended as a first-line test in the investigation and diagnosis of both acute and cutaneous porphyrias. If total porphyrins are elevated, the sample undergoes high-performance liquid chromatography (HPLC) to fractionate individual porphyrins. This allows for identification of the characteristic porphyrin pattern, aiding in the differentiation and diagnosis of specific porphyria types. Reported fractions include: (bullet points) Uroporphyrin I, Uroporphyrin III, Total Uroporphyrin (I + III), Heptacarboxylate porphyrin, Coproporphyrin I, Coproporphyrin III, Total Coproporphyrin (I + III).

Reference range

Total Uroporphyrin (I and III), 0 – 24 nmol/L

Heptacarboxylate Porphyrins 0 – 4 nmol/L,

Total Coproporphyrin (I and III) 0 – 115 nmol/L

Sample type and volume required: 10-20 mL fresh urine, preferably collected early morning. No preservative is necessary (plain universal)

Storage and transport: Store refrigerated. Send overnight at room temperature. Protect samples from light. If delay in dispatch, store and send frozen.

Contacts: Porphyrin Laboratory at Blackfriars Hub
Phone: 0208 078 8996
Email: PorphyrinLab@synnovis.co.uk
Porphyrin Laboratory
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London, SE1 8NZ