Clinical suspicion of acute or non-acute porphyria. Usually requested together with urine PBG.
May include otherwise unexplained abdominal pain, neurological or psychotic features, skin lesions.
Send to separating if ambient on arrival. Send to lipids/trace metals if frozen on arrival.
Make aliquot for UCRN. Protect from light. Send primary sample to lipids/trace metals.
Random urine 10 mL- protect from light
Chilled (2 - 8 degrees Celsius)
If overnight - Chilled (2 - 8 degrees Celsius)
Urine 20 mL Protect from light. Fridge
Raised urine porphyrins may indicate an underlying porphyria, although may be secondary to cholestatic liver disease where excretion is impaired and may also be seen in lead poisoning.
If raised, HPLC profiling will usually be added for metabolite profiling which will give an indication of underlying porphyria and which type.
Faecal and blood porphyrins often provide useful adjunctive diagnostic information.
Note that a raised urine PBG is the diagnostic hallmark of an acute attack of porphyria.
A negative urine PBG during an acute symptomatic episode excludes acute porphyria as the cause.
<0.035 umol/mmol crn
$27.23 (Exclusive of GST)
For adequate screening tests for porphyria we require:
Blood: 2-5 ml heparinised blood (T34)
Urine: 10-15 ml fresh random specimen
Faeces: A stool minimum 10 g (walnut size)
Specimens should be wrapped in foil, placed in a paper bag and not exposed to direct sunlight.
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