• 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.
  • 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.
  • 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 & BIOTINIDASEENZYME 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)
    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.
    Please write applicable test on blood collection card as well (e.g. CDG / BIOTINIDASE / PLSD)
  • 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.

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.

  • CSF sample (Refer to glycine specific analysis in test information)
  • Muscle biopsy (Refer to mitochondrial enzyme analysis in test information)
  • Contact the lab for information on other sample types including Fibroblasts, Amniotic fluid and EDTA blood.
  • 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.
Scroll to Top