Intermediate products of haem synthesis. Clinical indication for requesting: Investigation of all types of acute porphyria and all types of cutaneous porphyria. If an acute porphyria is suspected, it is essential to request a urine PBG. Urgent PBG analysis is available: urgency will depend upon the clinical condition of the patient and should be discussed with the National Acute Porphyria Service 029 2074 7747.
Tube
03 (EB) – EDTA Blood
ID
Tests&Tubes0233
Additional Information
Protect samples from light.
Clinical details are essential to ensure the most appropriate investigations are carried out.
Please also send 10 to 20 mL of early morning urine with a request for urine porphyrins if cutaneous porphyria is suspected.
Further guidance on sample selection available at:
Turn Around
Turnaround time stated by Cardiff porphyria service: 10 working days.
Send to
Blood Sciences LGI
(Test referred to: Cardiff porphyria service).
Contact
For further details please contact Ä¢¹½tvÊÓƵ Pathology customer services: [email protected].
Advice
Full information on all referred tests can be found on the referred tests information database, EQMS reference BSF2REC17003.
Collection Con
Minimum Volume: 5 – 10ml.
Instructions to lab: If one EDTA sample received, DO NOT CENTRIFUGE. If 2x EDTA samples are received, send 1x whole blood and 1x plasma (centrifuged). Store in fridge until dispatch to Cardiff. Note on telepath (specimen comment) whether sample was light-protected and if not, how long the sample was exposed to light. Samples that have not been protected from light are ok to send to Cardiff if<6h. Samples exposed to light for >6h should not be sent.
Sample REQ
Blood.
Ref. Range Notes
Plasma porphyrin screen: Not increased
RBC porphyrin screen: Negative
RBC total porphyrin: 0.4 – 1.7 umol/L