Test:

Full Metabolic Evaluation URINE

Mnemonic:

PMSUR

NHRPL Tariff code:

4221 + 4321 + 4188 + 4248 + 4268 + (4285 x2) + 4216 + 4326 + 4194 + (4020 x 2) + 4022

Tariff (including VAT):

R 7 554.51

Description:

Biochemical analyses, quntification/qualification and interpretation: U‐Creatinine, U‐Uric Acid, U‐Labstix, U‐ Reducing substances, QU‐Organic acids, U‐TLC‐Oligosaccharides, QU‐Fructose, U‐MPS‐DMB‐screen, U‐MPS GAGs LCMS/MS, QU‐Amino Acids, QU‐Carnitine profile.

Turnaround time:

15 work days from receipt of sample at CHM

Comments:

1. This test can be utilised to rule in or exclude: An amino aciduria, organic acidemia/uria, Some fatty acid oxidation disorders, carbohydrate related disorders as well as mucopolysaccharidosis. Adding serum amino acids and acylcarnitines to the profile may be more informtive with regards to amino acidopathes, carnitine transporter related disoerd as well as the full spectrum of fatty acid oxidation disorders. The full profile does not exclude all known inborn errors of metabolic disorders as biomarkers for some may be limited.
2. Medication intake/diet may significantly influence the analysis and subsequent result interpretation.
3. Bacterial and blood contamination of the urine sample may result in false positive/negative findings.

Sample requirements, viability, stability:

1. 10‐15 ml urine, NO preservatives added, frozen overnight, send on dry ice.
2. Viability: 1 year – kept frozen

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional testing and subsequent diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the patient/family would like to be contacted by our rare disease biobank.

Method:

Pre‐analytical screen / GC‐MS / LC‐MS/MS / Spectrophotometric / Thin‐layer chromotography

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19,
11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Thin layer chromatography of mono‐/oligosaccharides (qualitative) & quantitative fructose URINE

Mnemonic:

POLIGOu & PFRUCu

NHRPL Tariff code:

4221 + 4321 + 4188 + (4285 x 2)

Tariff (including VAT):

R 509.89

Description:

Above price includes the assay and interpretation:

1. Quantitative Interpretation: Fructose excretion
2. Qualitative interpretation: Mono‐/oligosaccharide excretion pattern
3. Labstix, creatinine and uric acid included in all urine referals

Turnaround time:

As a single test: 10 work days from receipt of sample at CHM.

As part of a screening panel: 15 work days from receipt of sample at CHM.

Comments:

1. This test is utilised to evaluate if a monosaccharide‐related disorder or oligosaccharidosis may be present.
2. Medication intake/diet may significantly influence the analysis and subsequent result interpretation.
3. Bacterial, protein and blood contamination of the urine sample may result in false positive/negative findings.

Sample requirements, viability, stability:

1. 5 ml random urine. Frozen overnight, send on dry ice.
2. Viability: 12 months – kept frozen. (Succinylacetone stability: no more than 7 days)
3. NO preservatives should be added.

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional testing and subsequen diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the patient/family would like to be contacted by our rare disease biobank.

Method:

Carbohydrates: Thin layer chromatography assay Fructose : Spectrophotometric assay

Reference range & units:

Carbohydrates: Reference ranges and units not applicable. Fructose ref range available on request

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19, 11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Intact glycoprotein (transferrin) analysis to screen for congenital disorder of glycosylation (CDG) ‐ Serum

Mnemonic:

PCDGQUANT

NHRPL Tariff code:

4268

Tariff (including VAT):

R 2 639.80

Description:

Above price includes the assay, quantification and interpretation

Turnaround time:

30 work days from receipt of sample at CHM (analysis performed at external lab)

Comments:

1. This test is utilised in the diagnosis of congential disorders of glycosylation. This include type 1 and to some extent type 2 subtypes. Some CDGs (such as ALG13‐CDG) do not present with an abnormal glycoprotein profile.
2. Blood transfussion may influence the analysis. We recommend this test 2 weeks after transfussion to prevent false negative.

Sample requirements, viability, stability:

1. VERY IMPORTANT: 2 ml SST serum sample.
2. Serum sample: (Spin samples down, Separate serum, transfer serum to another tube, freeze overnight, send on dry ice.
3. Viability: Serum ‐ 6 months.

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional testing and subsequent diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the patient/family would like to be contacted by our rare disease biobank.

Method:

LC‐MS/MS glycoprotein intact (transferrin) analysis ‐ Send‐away test

Reference range & units:

Reference ranges and units not applicable as pattern recognition is utilised for CDG typing.

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19,
11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Biotinidase Enzyme Activity Determination ‐ BLOOD CARD SAMPLE [DBS]

Mnemonic:

NPBIOT

NHRPL Tariff code:

4268

Tariff (including VAT):

R1,133.42

Description:

Above price includes the assay, quantification and interpretation

Turnaround time:

10 work days from receipt of sample at CHM

Comments:

1. This test is utilised in the diagnosis of profound or partial biotinidase deficiency
2. Blood transfussion may influence the analysis. We recommend this test 72hrs collection after the transfussion to avoid false negative findings.

Sample requirements, viability, stability:

1. 1x Dried blood spot [DBS] sample – 4 complete circles
2. Keep in sealed paper envelope after dried according to requirements, send separate from other wet specimens and within 2 days after collection. Humidity and extreme temperature may influence the stability of the biotinidase activity
3. Viability: 1 month, kept in a dry, cool place.

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional testing and subsequent diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the patient/family would like to be contacted by our rare disease biobank.

Method:

Biotinidase assay kit: PERKIN ELMER

Reference range & units:

Biotinidase enzyme acitity is expressed in % in relation to normal activity. Reference range can be provided upon request

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19, 11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Quantitative Galactose‐1‐Phosphate BLOOD CARD SAMPLE [DBS]

Mnemonic:

NPGAL

NHRPL Tariff code:

4238

Tariff (including VAT):

R 622.81

Description:

Above price includes the assay, quantification and interpretation

Turnaround time:

10 work days from receipt of sample at CHM

Comments:

1. This test can be utilised in the diagnosis of galactosemia due to GALT deficiency OR can be used as marker in treatment monitoring
2. Suspected GALT patients already on a lactose/galactose free diet may have normal galactose‐1‐phosphate levels. In this instance it cannot be used in 1st line diagnostics.

Sample requirements, viability, stability:

1. 1x Dried blood spot [DBS] sample – 4 complete circles
2. Keep in sealed paper envelope after dried according to requirements, send separate from other wet specimens and within 2 days after collection. Humidity and extreme temperature may influence the stability of metabolites
3. Viability: 1 month, kept in a dry, cool place.

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional testing and subsequent diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the patient/family would like to be contacted by our rare disease biobank.

Method:

Tandem‐Mass Spectrometry

Reference ranges & units:

Reference ranges is dependent on undiagnosed vs diagnosed patients on therapeutic intervention and can be provided upon request

Units: mmol/l

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19,
11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Immunoreactive trypsinogen (IRT): BLOOD CARD SAMPLE [DBS]

Mnemonic:

NPIRT

NHRPL Tariff code

4592

Tariff (including VAT):

R 622.81

Description:

Above price includes the assay, quantification and interpretation

Turnaround time:

10 work days from receipt of sample at CHM

Comments:

1. This test can be utilsed as a screening assay for Cystic fibrosis in neonates and early infancy ( < 24 days of life).

Sample requirements, viability, stability:

1. 1x Dried blood spot [DBS] sample – 4 complete circles
2. Keep in sealed paper envelope after dried according to requirements, send separate from other wet specimens and within 2 days after collection. Humidity and extreme temperature may influence the stability of metabolites
3. Viability: 1 month, kept in a dry, cool place.

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional testing and subsequent diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the patient/family would like to be contacted by our rare disease biobank.

Method:

Immunochemistry

Reference ranges & units:

Refererance range can be provided apon request

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19, 11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Newborn Screening

Mnemonic:

NNBS

NHRPL Tariff code:

4083 or (4238 x 3 + 4268 + 4592)

Tariff (including VAT):

R 1 646.16

Description:

Carnitines: Free carnitine (C0), Acetyl (C2)‐, Propionyl (C3)‐, Butyryl (C4)‐, Isovaleryl (C5)‐, 3‐Hydroxyisovaleryl (C5OH)‐, Glutaryl (C5DC)‐, Hexanoyl (C6)‐, Octanoyl (C8)‐, Decanoyl (C10)‐, Decenoyl (C10:1)‐, Myristoyl (C14)‐

, Tetradecenoyl (C14:1)‐, Palmitoyl (C16)‐ and 3‐Hydroxyhexadecanoyl‐carnitine

Amino acids: Phenylalanine, Leucine/Isoleucine, Valine, Methionine, Citrulline and Tyrosine Other: Galactose‐1‐phosphate, Biotinidase enzyme activity, Immunoreactive trypsinogen, 17‐ Hydroxyprogesterone, Thyroid stimulating hormone

Turnaround time:

10 work days from receipt of sample at CHM.

Comments:

Primary disorders targeted in the newborn screening program:

Amino Acid Disorders: Classic phenylketonuria, Homocystinuria, Maple syrup urine disease, citrullinemia Type I.

Organic acid disorders: Isovaleric acidemia, Propionic acidemia, Methylmalonic acidemia, Glutaric acidemia type I, Holocarboxylase synthase deficiency, 3‐Methylcrotonyl‐CoA carboxylase deficiency, 3‐Hydroxy‐3‐ methyglutaric aciduria, ß‐Ketothiolase deficiency.

Fatty acid oxidation disorders: Medium‐chain acyl‐CoA dehydrogenase deficiency, Very‐long‐chain Acyl‐CoA dehydrogenase deficiency, Long‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase deficiency/Trifunctional protein deficiency, Carnitine uptake defect/Carnitine transport defect

Other: Classic galactosemia, Congenital adrenal hyperplasia, Primary congenital hypothyroidism, Biotinidase deficiency, Cystic fibrosis

The primary disorders are diseases for which testing has a high diagnostic accuracy and where early intervention improves outcome. Note however that the test is a screening test. A negative result does not completely exclude the primary disorders. Due to the non‐specific nature of metabolic markers, disease other than the primary disorders may be identified.

Sample required:

Whatman 903 dried blood spot card with 4 blood spots. Cards must be sent on a seperate requisition number and should not include any other requests/samples.

Samples must be collected according to the NBS sample collection starndard operating procedure. EDTA samples are not viable for NBS testing. Air dry collected samples for at least two hours before placing in a sealed paper envelope. Collected samples should be kept at room temperature. Avoid high humidity and

temperatures. Samples must reach the CHM within two days from collection.

Information Required with sample(s):

Information that is required for the interpretation of the results:

1. Name and surname on both the dried blood card and the requisition form.
2. Date and time of birth.
3. Date and time of sample collection. Note that interpretation of the results requires the age of the patient to the nearest hour at the time of sample collection
4. Weight and gestational age at birth.
5. Gender, Feeding (please indicate the use of lactose free formulations) & Ethnicity
6. Specify the use of maternal steroids, antibiotics, Anticonvulsants, L‐Carnitine, TPN and blood transfusions
7. Specify if the collection is a first or repeat collection.

Absent clinical details may affect the interpretation of results and recommendations.

Method:

Tandem‐Mass spectrometry, Fluoro‐immunoassay, Enzymatic analysis

Contact no for results &

other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

newbornscreening@nwu.ac.za  &  pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19,
11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Newborn Screening (INTERNATIONAL)

Mnemonic:

NNBSInt

NHRPL Tariff code:

4083 or (4238 x 3 + 4268 + 4592)

Tariff (including VAT):

R 1 186.19

Description:

Carnitines: Free carnitine (C0), Acetyl (C2)‐, Propionyl (C3)‐, Butyryl (C4)‐, Isovaleryl (C5)‐, 3‐ Hydroxyisovaleryl (C5OH)‐, Glutaryl (C5DC)‐, Hexanoyl (C6)‐, Octanoyl (C8)‐, Decanoyl (C10)‐, Decenoyl (C10:1)‐, Myristoyl (C14)‐, Tetradecenoyl (C14:1)‐, Palmitoyl (C16)‐ and 3‐Hydroxyhexadecanoyl‐ carnitine

Amino acids: Phenylalanine, Leucine/Isoleucine, Valine, Methionine, Citrulline and Tyrosine Other: Galactose‐1‐phosphate, Biotinidase enzyme activity, Immunoreactive trypsinogen, 17‐ Hydroxyprogesterone, Thyroid stimulating hormone

Turnaround time:

10 work days from receipt of sample at CHM.

Comments:

Primary disorders targeted in the newborn screening program:

Amino Acid Disorders: Classic phenylketonuria, Homocystinuria, Maple syrup urine disease, citrullinemia Type I.

Organic acid disorders: Isovaleric acidemia, Propionic acidemia, Methylmalonic acidemia, Glutaric acidemia type I, Holocarboxylase synthase deficiency, 3‐Methylcrotonyl‐CoA carboxylase deficiency, 3‐ Hydroxy‐3‐methyglutaric aciduria, ß‐Ketothiolase deficiency.

Fatty acid oxidation disorders: Medium‐chain acyl‐CoA dehydrogenase deficiency, Very‐long‐chain Acyl‐ CoA dehydrogenase deficiency, Long‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase deficiency/Trifunctional protein deficiency, Carnitine uptake defect/Carnitine transport defect

Other: Classic galactosemia, Congenital adrenal hyperplasia, Primary congenital hypothyroidism, Biotinidase deficiency, Cystic fibrosis

The primary disorders are diseases for which testing has a high diagnostic accuracy and where early intervention improves outcome. Note however that the test is a screening test. A negative result does not completely exclude the primary disorders. Due to the non‐specific nature of metabolic markers, disease other than the primary disorders may be identified.

Sample required:

Whatman 903 dried blood spot card with 4 blood spots. Cards must be sent on a seperate requisition number

and should not include any other requests/samples.

Samples must be collected according to the NBS sample collection starndard operating procedure. EDTA samples are not viable for NBS testing. Air dry collected samples for at least two hours before placing in a sealed paper envelope. Collected samples should be kept at room temperature. Avoid high humidity and temperatures. Samples must reach the CHM within two days from collection.

Information Required with sample(s):

Information that is required for the interpretation of the results:

1. Name and surname on both the dried blood card and the requisition form.
2. Date and time of birth.
3. Date and time of sample collection. Note that interpretation of the results requires the age of the patient to the nearest hour at the time of sample collection
4. Weight and gestational age at birth.
5. Gender, Feeding (please indicate the use of lactose free formulations) & Ethnicity
6. Specify the use of maternal steroids, antibiotics, Anticonvulsants, L‐Carnitine, TPN and blood transfusions
7. Specify if the collection is a first or repeat collection.

Absent clinical details may affect the interpretation of results and recommendations.

Method:

Tandem‐Mass spectrometry, Fluoro‐immunoassay, Enzymatic analysis

Contact no for results &

other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

newbornscreening@nwu.ac.za  &  pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19,
11 Hoffmann street
North-West University, Potchefstroom, 2531

Test:

Selective Lysosomal disorder screening [6‐Plex] ‐ BLOOD SPOT SAMPLES [DBS]

Mnemonic:

PPLSDg

NHRPL Tariff code

NA

Tariff (including VAT):

Sponsered testing

Description:

Quantitative enzyme activity analysis of acid beta‐glucosidase (GBA), acid alpha‐glucosidase (GAA), Sphingomyelinase (SMPD1), alpha‐galactosidase (GLA), galactocerebrosidase (GALC), alpha‐L‐iduronidase (IDUA). The tests also include the following reflex international testing based on the following criteria:

1. Gaucher disease is suspected and Gaucher/ASMD is selected on the request form: International referral for lyso‐GL1 testing.
2. Mucopolysaccharidosis is supected and MPS panel is selected on the request form: International referral for expanded mucopolysaccharidosis testing including MPS II, IIIb, IVa, VI and VII.
3. Fabry disease is suspected in a female patient and Fabry disease is selected on the request form: International referral for lyso‐GL3 testing.
4. International referral for genetic testing if enzyme testing is suggestive of Gaucher, Niemann‐Pick A/B, Pompe, Fabry or MPS I, II, IIIb, IVa, VI or VII. Krabbe disease is not included.
5. International referral for lyso‐GL1 or lyso‐GL3 monitoring in patients that were diagnosed with Gaucher or Fabry disaease respectively.

Please note that selecting all options or none will result in no reflex testing.

Turnaround time:

10 work days from receipt of sample at CHM. The turnaround time does not apply to tests that were referred internationally.

Comments:

The above test can be utilised to rule in or exclude the following disorders on enzymatic and subsequent genetic level. These include: Fabry disease (α‐galactosidase def), Krabbe disease (galactocerebrosidase def), Gaucher disease (ß‐glucosidase def), Niemann‐Pick disease A / B (sphingomyelinase def), MPS I (α‐L‐ iduronidase def), Pompe / Glycogen storage defect type II (α‐glucosidase def). Lyso‐Gl1 substrate accumulation for Gaucher disease and Lyso‐Gl3 substrate accumulation in female Fabry patients can be

performed upon request.

Sample requirements, viability, stability:

1. All samples must be collected using kits provided by the CHM for collection. Sample collection should be done according to the instructions provided in the kit.
2. Allow blood to dry on the filter paper at ambient temperature in a horizontal position for at least 2 hours.

Information Required with sample(s):

Absent clinical details may affect the interpretation of results and recommendations for further/additional

testing and subsequent diagnosis of a metabolic disorder. Consent to use below information (point 4) is required according POPIA regulation.

1. Clinical history of the patient. The referring clinician can complete the clinical history form on our website at https://pliem.co.za/test‐request‐form OR download the clinical history form from our website (same link) and send it with sample/email it to pliem@nwu.ac.za.
2. Other relevant medical reports (e.g. MRI brain, EEG, X‐Ray reports, sonar reports, biopsy reports, genetic testing reports, etc) which may assist in the diagnosis of a metabolic disorder can be emailed to pliem@nwu.ac.za.
3. Cumulative, routine pathology results of the patient (including archive results available) ‐ this must be provided and emailed to pliem@nwu.ac.za by the referring pathology laboratory.
4. Please complete the short consent form (https://pliem.co.za/test‐request‐form) and also indicate if the

patient/family would like to be contacted by our rare disease biobank.

Method:

Liquid Chromatography‐Tandem Mass Spectrometry (LC‐MS/MS)

Reference ranges & units:

Referance range provided upon request. Unit: nmol/mL/hr

Contact no for results & other enquiries:

018 299 2312 (Call centre): 1) Await for available agent to answer OR 2) Press 2 to leave a message

E‐mail address:

pliem@nwu.ac.za

Delivery address for samples:

Center for Human Metabolomics (CHM),
Sample reception (PLIEM/NBS/CRS) Building F3,
Room Number G19,
11 Hoffmann street
North-West University, Potchefstroom, 2531