Porphyrin Screen, Urine

Diagnostic Use

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.

Department

Lipids/Trace Metals

Delphic Registration Code

PORU

Laboratory Handling

Registration

Send to separating if ambient on arrival. Send to lipids/trace metals if frozen on arrival.

Separating

Make aliquot for UCRN. Protect from light. Send primary sample to lipids/trace metals.

Turnaround Time

2 weeks

Test Code

3276

Specimen Type

• Urine

Specimen Requirements

Tube/Container Type:

Preferred

• Pottle

Preferred Sample Volume (ml)

10

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• Pottle

Preferred Sample Volume (ml)

10

Minimum Sample Volume (ml)

5

Additional Specimen Information

Random urine 10 mL- protect from light

Aliquot Instructions

Sample Type

• Urine

Minimum Volume (ml)

4

Transport to Lab

Chilled (2 - 8 degrees Celsius)
If overnight - Chilled (2 - 8 degrees Celsius)

Additional Referral/Aliquot Information

Urine 10 mL Protect from light. Fridge

Interpretation

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.

Reference Intervals

<0.035 umol/mmol crn

Test Method

Spectrophotometric Scan

Non-Funded Test Cost

$30.17 (Exclusive of GST)

Billing Code

3276

Additional Costing Information

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.

Contact Information

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Contact Information

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