Clinical suspicion of acute or non-acute porphyria.
May include otherwise unexplained abdominal pain, neurological or psychotic features, skin lesions.
May occasionally be requested as a corroborative test for lead poisoning.
Whole blood protected from light
whole blood protected from light to Trace metals fridge
Free Erythrocyte Protoporphyrin
Protect from light.
Chilled (2 - 8 degrees Celsius)
If overnight - Chilled (2 - 8 degrees Celsius)
Protect from light. Fridge
Raised blood porphyrins may indicate underlying porphyria, in particular the non-acute erythropoietic protoporphyria (EPP), a childhood onset photosensitive disorder.
In EPP, plasma will show a fluorescence emission peak at 632nm, which is highly specific.
If EPP is suspected, it is important to send all samples – blood, urine and faeces protected from light for full evaluation which may include HPLC profiling. FECH genotyping is also available.
More commonly, blood porphyrins are raised in the context of iron deficiency as the disorder affects the final enzyme in the haem pathway, ferrochelatase which incorporates iron into protoporphyrin to form haem. Lead poisoning also leads to raised zinc protoporphyrin (blood porphyrins).
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.
Expected to be not raised.
$14.26 (Exclusive of GST)
NB: EPP is an abreviation Erythrocyte Protoporphyrin.
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.
Urgent testing by arrangement.
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