Porphyria Service (SAAS)
Description:
The Porphyria Laboratory at Synnovis is one of only two Supra-Regional Assay Service (SAS) laboratories for porphyria in the UK. Formerly based at King’s College Hospital, the laboratory relocated in July 2025 to the Synnovis Hub laboratory in Blackfriars. Following the move, there is currently a temporary and voluntary suspension of our UKAS accreditation. This will be reinstated upon completion of an extension-to-scope assessment. The laboratory is a member of the European Porphyria Initiative (EPI) and actively participates in the WEQAS, RCPA, and IPNET external quality assurance (EQA) schemes. It offers a comprehensive range of biochemical diagnostic tests for both acute and cutaneous forms of porphyria. The laboratory works closely with two UK Porphyria Centres of Expertise :King’s College Hospital (KCH) – one of the two National Acute Porphyria Centres and Guy’s Hospital – which provides a national cutaneous porphyria clinical service. In addition to diagnostic services, the laboratory has a strong research focus, particularly in the clinical and diagnostic aspects of the porphyrias. For more information, please visit:
Clinical details:
Intermediates of haem biosynthesis are measured in biological specimens (urine, faeces and blood) for the diagnosis and monitoring of the porphyrias, using techniques such as ion-exchange chromatography, spectrophotometry, fluorescence spectroscopy and HPLC. Assays available: Urine: Quantitative measurement of urinary porphobilinogen (PBG and delta-aminolevulinic acid (ALA).Total urine porphyrins HPLC fractionation of individual porphyrins and isomers (reflex test) ++ Faeces Quantitiative total faecal porphyrin HPLC fractionation of individual porphyrins and isomers (reflex test)++ Blood Plasma fluorescence emission scan Quantitative red cell free and zinc protoporphyrin
The laboratory operates in conjunction with an outpatients clinic for porphyria patients that receives referrals from many parts of the UK. A network of specialists with an interest in porphyria has been established, consisting of a gynaecologist, neurologist, dermatologist etc. The laboratory has a strong research link with a major interest in clinical and diagnostic aspects of the porphyrias. Details on King's College Hospital's Porphyria Clinic are downloadable below. For more information about porphyria please see http://www.porphyria-europe.com.
ASSAYS AVAILABLE
++ Urine
Quantitative measurement of urinary porphobilinogen (PBG), delta aminolevulinic acid (ALA),
Total urine porphyrin
HPLC fractionation of individual porphyrins and isomers
++ Faeces
Quantitiative total faecal porphyrin
HPLC fractionation of individual porphyrins and isomers
++ Blood
Plasma fluorescence emission scan and quantitative plasma porphyrin
Quantitative red cell free and zinc protoporphyrin
Erythrocyte hydroxymethylbilane synthase (HMBS; formerly called PBG-deaminase)
The laboratory operates in conjunction with an outpatients clinic for porphyria patients that receives referrals from many parts of the UK. A network of specialists with an interest in porphyria has been established, consisting of a gynaecologist, neurologist, dermatologist etc. The laboratory has a strong research link with a major interest in clinical and diagnostic aspects of the porphyrias. Details on King's College Hospital's Porphyria Clinic are downloadable below. For more information about porphyria please see http://www.porphyria-europe.com.
ASSAYS AVAILABLE
++ Urine
Quantitative measurement of urinary porphobilinogen (PBG), delta aminolevulinic acid (ALA),
Total urine porphyrin
HPLC fractionation of individual porphyrins and isomers
++ Faeces
Quantitiative total faecal porphyrin
HPLC fractionation of individual porphyrins and isomers
++ Blood
Plasma fluorescence emission scan and quantitative plasma porphyrin
Quantitative red cell free and zinc protoporphyrin
Erythrocyte hydroxymethylbilane synthase (HMBS; formerly called PBG-deaminase)
Units:
N/A
Department:
Location:
Sample type and Volume required:
++ Urine
Random or 25 ml aliquot of a 24hr collection
No preservative is necessary but specimens should be protected from light
++ Faeces
A small specimen (approximately 10g)
++ Blood
5-10 ml blood collected into EDTA or heparin. Centrifuge
Random or 25 ml aliquot of a 24hr collection
No preservative is necessary but specimens should be protected from light
++ Faeces
A small specimen (approximately 10g)
++ Blood
5-10 ml blood collected into EDTA or heparin. Centrifuge
Call in advance:
No
Turnaround time:
7-14 days
Special sample instructions:
Specimens should be protected from light
Storage and transport:
Specimens can be stored up to one week at fridge temperature and should be sent overnight at room temperature. If delays in dispatch freeze specimens and send overnight or frozen. Separate plasma from red cells if freezing.
Contacts:
Porphyrin Laboratory at Blackfriars Hub
0208 078 8996
PorphyrinLab@synnovis.co.uk
Porphyrin Laboratory at Synnovis
Reference Chemistry, Floor One
Friars Bridge Court/ 41-43 Blackfriars Road/
London, SE1 8NZ
Reference Chemistry, Floor One
Friars Bridge Court/ 41-43 Blackfriars Road/
London, SE1 8NZ
Laboratory:
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Last updated: 16/03/2026
