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Porphyria Screening, Diagnosis and Monitoring

Blood Sciences Test


Specimen

See table below for sample type guidance

Special Instructions

Samples must be protected from light (wrap sample in foil or enclose in brown envelope)

Test Usage

Screening/Diagnosis:

Clinical Presentation Specimens Comments
Acute neurological attacks (suspected AIP, VP, HCP) Random urine (25ml) (plain universal tube) To exclude a current attack urine alone is adequate.
Acute photosensitivity (suspected EPP) EDTA Blood Urine and faeces of no value.
Skin lesions (suspected PCT, VP, HCP or CEP) EDTA Blood To exclude a current active cutaneous porphyria blood alone is adequate.

If screening tests are positive, further blood, urine or faecal samples may be requested by the Cardiff Porphyria Service for quantitative analysis and confirmation.

Monitoring:

Known Diagnosis Specimens

Acute Intermittent Porphyria (AIP)

Hereditary coproporphyria (HCP)

Variegate Porphyria (VP)

Porphyria Cutanea Tarda (PCT)

Random urine (25ml) (plain universal tube)
Congenital erythropoietic porphyria (CEP)

 

EDTA Blood AND

Random urine (25ml) (plain universal tube)

Erythropoietic protoporphyria (EPP)

X-linked Erythropoietic protoporphyria (XLEPP)

EDTA Blood

Availability

Referred test

Please note local urine porphyrin screening is no longer performed in Exeter. All requests are referred to the Cardiff Porphyria Service.

Turnaround Time

2 to 4 weeks

Cannot be added on to an existing request

Specimen Labelling Procedure
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