Diagnostic Overview – Cliniques universitaires St Luc (Bruxelles)-Université catholique de Louvain
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Genetic and Basic Metabolite & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
| No data was provided | |
Available molecular techniques:
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Fatty Acid Oxidation (FAO Disorders) | |||
| Lysosomal Storage Disorders (LSD) | |||
| Peroxisomal Disorders (PD) | |||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| Laboratoire des maladies métaboliques héréditaires etCentre de dépistage neonatal
In house metabolic laboratory
|
Tour Franklin, avenue Hippocrate 10, 1200 Bruxelles
https://www.saintluc.be/laboratoires/activites/biologie-clinique/biochimie/biochimie-metabolique.php
|
| Contact person Dewulf Joseph | joseph.dewulf@uclouvain.be |
Metabolite Tests |
|
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative, |
| Amino acids quantitative, | |
| Organic acids qualitative, | |
| Organic acids quantitative, | |
| Orotic acid, | |
| Succinylacetone | |
| Plasma
|
Amino acids quantitative, |
| Acylcarnitines, | |
| Carnitine, free and total, | |
| Succinylacetone, | |
| Total homocysteine | |
| Dry blood spots | Amino acids, |
| Acylcarnitines, | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Plasma | Galactose, |
| Dry blood spots | Gal and Gal-1P semiquantitative |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans qualitative (screening tests) |
| Glycosaminoglycans quantitative, | |
| L-Cystine, | |
| Mucopolysaccharide electrophoresis/TLC, | |
| Sialic acid, | |
| Oligosaccharides TLC, | |
| White blood cells | Cystine |
| Peroxisomal Disorders (PD) | |
| Plasma
|
7-Dehydrocholesterol |
| Cholestanol | |
| Cholesterol | |
| Phytanic acid | |
| Pristanic acid | |
| Sterol Very long chain fatty acids- VLCFA,biosynthesis intermediates | |
| Sitosterol | |
| Campesterol | |
| 27-hydroxycholesterol | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | N-Glycosylation: Capillary electrophoresis |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
L-Pipecolic acid, |
| Purines and pyrimidines | |
| U-Copper (24h) | |
| Plasma | p-Copper, |
| p-Ceruloplasmin | |
| P6C (delta1-piperidein-6-carboxylic) CSF: 5-MTHF | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| CSF | Pyruvate/lactate |
Enzyme Tests |
||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | No | |
| Organic Acidurias | Yes | |
| Urea cycle disorders | No | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases |
No | |
| Carbohydrate diseases other than Glycogen storage diseases |
Yes | |
| Fatty acid oxidation and carnitine transport disorders |
No | |
| Disorders of Ketogenesis and Ketolysis | No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses | No | |
| Sphingolipidoses | No | |
| Oligosaccharidosis | No | |
| Mucolipidoses | No | |
| Lysosomal glycogen storage disease (Pompe disease) | No | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | No | |
| Single peroxisomal enzyme deficiencies | No | |
| Disorders of Cholesterol synthesis | No | |
| Bile Acid Synthesis | No | |
| Phospholipid and Glycosphingolipid Synthesis | No | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | No | |
| O-glycosylation disorders | No | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Neurotransmitter disorders | No | |
| Porphyrias | No | |
| Disorders of Purine and pyrimidine metabolism | Yes | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Creatine metabolism | No | |
| Pyruvate dehydrogenase | No | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | No | |
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