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Test Category: Biochemistry

Investigation Name:Porphyria Acute currently asymptomatic (Diagnosis)

Alias or Abbreviation:Porphyria

Pathology Laboratory:Clinical Chemistry/ Biochemistry

Requestable Seperately?No

Part of Profile:Yes

Tests in Profile:Urine PBG/Cre & Porphyrin/Cre; plasma & faecal por

Minimum Sample Volume:3 mL urine , 2 mL, blood 2 g faeces

Expected Turnaround Time:In house 1 day, Send away 7-14 days from receipt

Test Code:AAPS

Sample Type:

Urine+Blood

Complex Reference Range:Urine PBG/Cre <1.5 umol/mmol
Urine porphyrin/Cre <35 nmol/mmol
Faecal porphyrin <200nmol/g dry weight
Plasma porphyrin Free text report
If patient <16 years profile includes ALA/Cre <5.2umol/mmol
If faecal porphyrin >=200nmol/g dry weight then HPLC fractionation performed

Collection Conditions / Other Information:Random urine in white top universal, EDTA blood (purple top), faeces in blue top universal.
PROTECT SAMPLES FROM LIGHT. Please note: urine PBG,
LAB INFORMATION: If sample arrives unprotected from light but was collected <6hrs ago, protect from light, add ZIP comment and write ‘exposure to light (<6hrs) has occurred’ on request form sent to Cardiff.
If sample arrives unprotected from light and was collected >6hrs ago, sample cannot be analysed – reject samples and request repeat. Please pass onto BMS immediately.

Reference Laboratory Details:Dept of Medical Biochemistry, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW. (Tel: 029 2074 3565)

Referred to Another Laboratory?Yes

Contact Number:01902 307 999 Ext 88266