Click here to download general sample protocol (PDF, 136K)
Click here to download muscle biopsy protocol (PDF, 327K)

Sample handling


URINE SAMPLES


  • All urine samples must please be FROZEN overnight and sent on dry ice in a cooler box.
  • NO PRESERVATIVES must be added to the urine sample.
  • For CYSTINE & HOMOCYSTINE analysis we need a 24 hour sample (volume must please be provided to calculate the excretion per day)
    Only 15 ml of the total 24 hour urine volume must be measured, frozen overnight and sent on dry ice for the CYS and HCYS analyses.

SERUM SAMPLES - Yellow top tube


  • Please avoid using red top tubes for blood collection, especially if the sample is not spun down and separated immediately (as required).
  • The blood sample must please be spun down, the serum transferred to another tube, frozen overnight and sent on dry ice in a cooler box.
  • If the sample is haemolysed, no analysis can be done, because haemolysed samples could give false positive or negative results.
  • IMPORTANT: EDTA blood samples (purple tops) must NOT be separated nor spun down.
  • Transport all EDTA blood samples at room temperature and NOT on ice.

BLOOD CARD SAMPLES


  • All circles must be completed.
  • The sample must be taken by heel or finger prick and done in one circular movement. Be careful not to ‘overlay’ the sample!
  • Please see instructions for taking of the sample at the back of the blood card.
  • Allow samples to dry in a horizontal position (contact brenda.klopper@nwu.ac.za for more specific information on Newborn Screening requirements and Information.)
  • CARBOHYDRATE DEFICIENT GLYCOPROTEIN SCREENING & BIOTINIDASE ENZYME ACTIVITY DETERMINATION – allow samples to dry in a horizontal position (see instructions at the back of the blood card / Guthrie card).
  • PLSD-screening test - 2x blood collection cards are required - allow samples to dry in a horizontal position (see instructions at the back of the blood card / Guthrie card)

IMPORTANT:

  1. Please do NOT transport any blood collection cards (Guthrie cards) in a plastic bag, since it could cause damage to the sample and make the sample not viable for the requested tests. Place the DRIED blood card sample in a normal paper envelope, together with the request form and sent at ROOM TEMPERATURE to our PLIEM laboratory.
  2. Please write applicable test on blood collection card as well (e.g. CDG / BIOTINIDASE / PLSD)

CFS (cerebrospinal fluid) and SERUM SAMPLES for GLYCINE SPECIFIC ANALYSIS (both required for this analysis)


  • CSF SAMPLE must be frozen ovenight and transported on DRY ICE, since protocol requires that the sample does not defrost / thaw out during transport as it is only viable for analysis when received frozen.
  • SERUM SAMPLE must be collected according to specifications above (as for other serum samples), separated, frozen overnight and sent together with the CSF sample on DRY ICE.
  • IMPORTANT: For GLYCINE SPECIFIC analyses – the CSF + SERUM SAMPLES must be taken on the same date and time.

OTHER SAMPLES FOR SPECIFIC ENZYME ANALYSIS


  • Please contact Dr. Marli Dercksen (marli.dercksen@nwu.ac.za / 018 299 2302) for quotation and inquiries of tests, not specified on this page, since the samples should be collected according to certain specifications and protocols.

FIBROBLAST SKIN CULTURE


  • Please contact our laboratory for skin biopsy protocol and relevant information regarding any specific analysis requested on fibroblast skin culture samples.
  • PRIOR ARRANGEMENTS must be made, in order to avoid possible contamination of collected samples during transport.

MUSCLE BIOPSY – MITOCHONDRIAL ACTIVITY DETERMINATION


  • The referring clinician (not patients) may contact Prof. Francois van der Westhuizen at the mitochondrial laboratory, for muscle biopsy protocol that should be followed and for PRIOR ARRANGEMENTS. Contact details: 018 299 2307 / francois.vanderwesthuizen@nwu.ac.za
Download muscle biopsy protocol (PDF, 327K)
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