See table below for sample type guidance
Samples must be protected from light (wrap sample in foil or enclose in brown envelope)
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 |
Referred test
Please note local urine porphyrin screening is no longer performed in Exeter. All requests are referred to the Cardiff Porphyria Service.
2 to 4 weeks
Cannot be added on to an existing request
Specimen Labelling Procedure
8210
