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Test Directory - Porphyrins

Synonyms

Porphobilinogen, PBG, 

Clinical Indications

Clinical Presentation

Specimens

Comments

Acute neurological attacks (suspected AIP, VP, HCP)

Urine
Faeces
Blood

To exclude a current attack or to monitor known porphyria, urine alone is adequate. Urine screen is provided in-house.

Acute photosensitivity (suspected EPP)

Blood

Urine and faeces of no value.

Skin lesions (suspected PCT, VP, HCP or CEP)

Urine
Faeces
Blood

To monitor patients with PCT send urine only.

Request Form

Combined Pathology Blood form (Yellow/Black)

Availability

On request, if specific criteria met.

Specific Criteria

Investigation suspected porphyria. The incidence of porphyria is such that an average District should contain about 20 patients with overt porphyria. The rate of diagnosis is much less than this and may be due to failure to suspect porphyria as a possible diagnosis.

Turnaround Time

Same day (Monday to Friday) for in-house urine screen. Otherwise 3 weeks.

Specimen

Blood (plasma and red cells), Early Morning Urine or Faeces (small random sample approx. 10g). Protect from light

Volume

2 ml (blood); 10 ml (urine); 10 g (faeces)

Container

Pink top (EDTA) tube (heparin also acceptable)

Collection

Samples should be transported to the laboratory protected from light..

Lab. Handling

Blood samples: separate plasma from cells and send BOTH plasma and cells. Send samples by first class post (avoid weekends).

Causes for Rejection

Unlabelled sample.

Interpretation

Acute neurological attacks: if urine screen normal and urine was collected during a suspected attack then no further tests are normally required.

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Last edited 07/08/08