Porphyria Service (SAAS)

Purpose of the test

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. Intermediates of haem biosynthesis are measured in biological specimens (urine, faeces and blood) using techniques such as ion-exchange chromatography, fluorimetry and HPLC. The laboratory is CPA accredited, 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. For more information about porphyria please see http://www.porphyria-europe.com

ASSAYS AVAILABLE

• Urine

Quantitative measurement of urinary porphobilinogen, 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

Quantitative red cell free and zinc protoporphyrin

Erythrocyte hydroxymethylbilane synthase (HMBS; formerly called PBG-deaminase)

Sample Requirements

• 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, remove plasma (retain if plasma assay is also required) and transfer the cells to a PLASTIC container. At least 0.5 ml packed cells required for assay

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.

PDF Request Form

Download Porphyria Service (SAAS) Request Form

Turnaround Time

1 - 3 Weeks (depending on the complexity)

Price

Price available on application - please contact adrianturner1@nhs.net. Discounts could be available for significant workloads.

Contacts

Dr Joanne Marsden Tel: 020 3299 3856. e-mail: joannemarsden1@nhs.net

Dr Hagosa Abraha Tel: 020 3299 4130. e-mail: h.abraha@nhs.net

References

Marsden JT, Chowdhury P, Wang J, Deacon A, Dutt N, Peters TJ, Macdougall IC. Acute intermittent porphyria and chronic renal failure. Clin Nephrol 2008; 69(5): 339-346

Marsden JT, Peters TJ (2004) Rhabdomyolysis in a patient with acute intermittent porphyria. Ann Clin Biochem 41: 341-343

Winkler AS, Peters TJ, Marsden JT, Deacon AC, Chandler G, Macdougall IC (2003) Erythropoietin treatment in the neuropsychiatric porphyrias. Clin Chim Acta 338: 61-6

Winkler AS, Marsden J, Deacon A, Wilson S, Chandler G, Macdougall IC, Peters TJ (2002) Serum erythropoietin levels may be inappropriately low in the acute neuropsychiatric porphyrias. Clin Chim Acta 317: 93-100

Bosman DR, Osborne CA, Marsden JT, Macdougall IC, Gardner WN, Watkins PJ (2002) Erythropoietin response to hypoxia in patients with diabetic autonomic neuropathy and non- diabetic chronic renal failure. Diabet Med 19: 65-9

Bosman DR, Winkler AS, Marsden JT, Macdougall IC, Watkins PJ (2002) Anemia with erythropoietin deficiency occurs early in diabetic nephropathy Diabetes Care 24: 495-9

Twaddle S, Wassif WS, Deacon AC, Peters TJ (2001) Celiac disease in patients with variegate porphyria. Digestive Diseases and Sciences 46: 1506-8

5-HIAA