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Guidelines for the Collection and Despatch of Samples for Porphyria Analysis

Primary Samples Required for  Porphyrin Testing

Urine

The tests to be performed are porphyrin and precursor screening, ALA, PBG and porphyrin quantitation.
 

Quantity: Approximately 30 millilitres random urine
Container: Small plastic pathology specimen container available from doctor or chemist. Ensure that it is watertight and light-proof (we suggest wrapping the containers in aluminium foil)

Blood

The tests to be performed are erythrocyte fluorescence screen, plasma porphyrin scan and DNA testing.

Anticoagulant: EDTA
Quantity: 10ml (2 tubes)
Container: Mauve Vacutainer™ (as for haematology)

If necessary, plasma and erythrocyte porphyrin quantitative assay and further DNA tests can be performed on the same sample.

The specimen should not be frozen and should reach Cape Town within 48 hours on any day except Friday, Saturday and Sunday. It must be clearly labelled with date and time.

Stool Samples

Stool samples are not required in all cases. Where necessary, a stool sample may be requested, in which case we require the following:
 

Quantity: Approximately 15 grams solid stool (This is about 3 teaspoonfuls of stool). Tests cannot be performed on liquid stool.
Container Small plastic pathology specimen container available from doctor or chemist. Ensure that it is watertight and light-proof and that it is no more than half fuII.

Transport to The UCT Laboratory

Despatch via a private doctor or pathology laboratory

  • Your doctor should be able to supply containers and instruct you on the collection of the necessary samples.
  • Ensure, once collected, that the containers are labelled with the patient's name, age and the date of collection.
  • Ensure that they are watertight and light-proof.
  • Give them to your doctor who will either send them on to us directly (as packaged above) or via a private pathology laboratory.
  • If being routed through a private pathologist, please ensure that our laboratory is specifically requested as we offer the only fully diagnostic quantitative porphyrin evaluations currently available.
  • Doctors please note: Ensure correct patient and doctor identification and please supply brief details relevant to the reason for suspecting porphyria (e.g. family history, skin lesions, not just "?porphyria").

Note: When samples are sent via a private doctor or pathologist (or with their consent), please give Medical Aid name and number if applicable.

Despatch from home

Under special circumstances, we may advise you to send or deliver samples to us directly. (Obviously it is better and more convenient to make use of your clinic, hospital or private pathology laboratory.)

  • Collect required samples. (If pathology specimen containers are not available, use any small, clean bottle with a screw-on lid.)
  • Ensure that they are labelled with your name and the date (we suggest the use of a waterproof marker pen such as a "Koki").
  • Ensure that they are watertight and lightproof.
  • Place them separately in small plastic bags and seal (we suggest the use of an elastic band or a knot).
  • Pack in a small box or tin with plenty of absorbent padding (we suggest using cotton-wool or plenty of paper towel/tissue).
  • Include a note indicating who the samples are from, date of birth, a contact address and the name and address of your doctor if possible.
  • Wrap the box in brown paper and send via normal parcel post to the above address. If you are sending this from up country, you should send it airmail. You should state that the package contains biological specimens (note that it is not necessary to use a specialist courier service).

Address samples to:

Porphyria Laboratory
MRC/UCT Liver Research Centre
K Floor, Old Main Building
Groote Schuur Hospital
OBSERVATORY, 7925


Results

Results of preliminary screening are available 1-3 days after receipt of specimens. Full results of chromatography are normally ready within 10-14 days of receipt (Tel. 021-4066391 or 021-4066332).