- 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 email@example.com 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)
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.
Please contact Dr. Marli Dercksen (firstname.lastname@example.org / 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.