Receive the Form with PDF Attachment
To obtain a copy of this form as PDF attachment for printing, please provide your email address below.
*Comprehensive Test Selection Tool: Complete this section if the required tests are uncertain. The completed form will assist with the selection of the appropriate tests based on the patient’s phenotype.
*Patient Clinical Information: Complete this section when you are certain of the required tests and wish to submit clinical information only.
Step 1: Select a clinical category and group
A code should be selected based on the patient’s clinical presentation. There are two main categories: (A) acute/progressive and (B) storage, which includes hepatosplenomegaly and other storage-related signs. Each category is further divided into several groups. When multiple presentations are present, select the most prominent category and group. For example, if a patient presents with massive hepatosplenomegaly and mild dysmorphic features, code B1 should be chosen instead of A6.
Step 2: Review selected tests & samples
Based on the code selected in Step 1, a list of recommended routine and metabolic tests are provided. Review the suggested tests carefully. Any tests deemed unnecessary can be deselected, and additional tests can be added as needed. Pay close attention to the footnotes and the sample requirements provided. These sample requirements are also printed with the test request to ensure they are readily available for the phlebotomist’s review.
Pathology Tests:
Metabolic Tests:
Legend:
- (1) - Request if hypoglycaemia is the primary presentation
- (2) - Request if hyperlactatemia is present
- (3) - Request if macrocytic anaemia is present
- (4) - Request if hyperammonaemia, renal tubular acidosis, pellagra-like skin lesions or urolithiasis is present
- (5) - Usually advised by the laboratory when suspecting a carnitine transporter deficiency, glutaric aciduria type I or SUCLA/SUCLG1 deficiency
- (6) - Monitoring of galactosemia
- (7) - Request in neonate/infant with seizures, kinky hair, cutis laxa and vascular abnormalities. Request in child/older with acute/chronic liver disease, haemolytic anemia and Kayser-Fleischer rings
- (8) - Select if hemochromatosis is considered. Patient presents with hepatomegaly, cirrhosis, heart failure, diabetes and hypopituitarism.
- BG - Capillary tube or syringe for blood-gas analysis. Transport on ice.
- csf(G) - Fluoride (grey top). Clear tap is required, no blood contamination.
- DBS - Dried blood spot. Check expiry date
- DBS** - Include: Fabry, Pompe, Gaucher, MPS, Niemann-Pick, and Krabbe enzymes. Must be requested on a separate laboratory number. This is an industry sponsored test and incurs no cost to the patient. Only one disease must be selected.
- G - Fluoride (Grey top tube).
- Green* - Heparin (Green top tube). On ice. Separate plasma from cells within one hour and analyze or freeze
- P - EDTA (Purple tube) always full
- P* - EDTA (Purple tube) on ice, always full.
- P** - EDTA (Purple tube) always full. Test is referred to the NHLS
- PCA - PerChloric acid tube. Arrange with the lab in advance
- POCT - Point of care ketometer
- U* - 25ml urine on ice, no additives
- U** - 25ml urine on ice, no additives, protect from light
- Y - SST (Yellow top tube)
- Y* - SST (Yellow top tube) on ice
- Y*!H - SST (Yellow top tube) on ice. Check for haemolysis before sending the sample to NWU
Step 3: Provide clinical information
To assist in interpreting the metabolic results and support appropriate recommendations, please provide the following clinical details. Kindly number your responses and ensure all six questions are completed as thoroughly as possible:
- Key clinical features at presentation
- Medical history of note
- Radiology results (if available)
- Current treatment and/or feeding regimen (if applicable)
- Antenatal and peripartum history
- Relevant family history
You may enter all information in the space below:
Step 4: Add a copy doctor if you wish
Please consider adding the metabolic laboratory/Prof Chris Vorster as a copy doctor. Having access to routine laboratory results assists greatly with result interpretation. The following mnemonics should be used for the different laboratories.
mnemonics:
Step 5: Print the test selection form from email and hand to the patient or phlebotomist for sample collection
Patient Section
I consent to the North-West University (NWU) requesting additional testing (including international referral), information, and reports required for diagnostic purposes, provided that such actions will not be undertaken automatically if there are cost implications without prior consultation.
The North-West University (NWU)may contact me with regards to participation in research or other opportunities that could result in a diagnosis or improve patient care.
The National Metabolomics Platform is a specialized laboratory dedicated to diagnosing rare and inherited metabolic diseases. Located on the Potchefstroom campus of North-West University, the laboratory may occasionally require additional tests, including genetic testing, to confirm a diagnosis. If these tests incur additional costs, the laboratory will seek prior approval from you and/or your clinician. To ensure diagnostic accuracy, clinical information and other reports may also be requested. Such requests are made solely to enhance the precision of the diagnosis. Following a diagnosis, the laboratory may contact you about potential research projects for which you might be eligible. These projects aim to improve the understanding and characterization of rare diseases and offer patients opportunities to participate in international clinical trials. Participation in these projects is entirely voluntary, and there is no obligation to take part if contacted. All research is conducted under the oversight of the NWU Health Research Ethics Committee.
