Porphyria Service (SAAS)

Description: 
Intermediates of haem biosynthesis are measured in biological specimens (urine, faeces and blood) using techniques such as ion-exchange chromatography, fluorimetry and HPLC.
Clinical details: 
The porphyria service is one of four Supraregional Assay Service (SAAS) designated sections within the Department of Clinical Biochemistry and one of only two SAAS porphyria laboratories in the UK. Our laboratory is a UKAS accredited medical laboratory no.6067, is a member of the European Porphyria Initiative (EPI), and participates in WEQAS and RCPA-Australian EQA schemes.

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)
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
Special sample instructions: 

++ Faeces

Specimens should be protected from light

++ Blood

Specimens should be protected from light

Storage and transport: 
Specimens can be sent by first class post without ice packs. Avoid posting over weekends. Specimens are stable for several weeks if frozen whilst awaiting dispatch. If possible, please complete the request form attached and send as a hard copy (do not send electronically) with the sample.This will ensure all relevant information is available and will aid us in processing your test.
Contacts:
Reference Biochemistry Department at King's College Hospital
020 3299 4107
King's College Hospital
Denmark Hill
London SE5 9RS
Porphyrins and Gastrointestinal Laboratory at King's College Hospital
Porphyrins - 020 3299 3856, Gut Permeability - 020 3299 4133
King's College Hospital
Denmark Hill
London SE5 9RS
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 29/01/2019