Laboratory Medicine UZ LeuvenMetabolite & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Center for Human Genetics | https://www.uzleuven.be/en/centre-human-genetics |
| Contact person Eric Legius
|
cme_dna@uzleuven.be
|
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Whole genome sequencing (WGS)
- Multiplex ligation-dependent probe (MLPA)
- Rapid WES/WGS based gene diagnostics are available as research project; the turnaround time is 6-8 weeks.
- The genetic laboratory/geneticist collaborates with other professionals on complementing the genetic findings with the clinical and biochemical phenotype (multidisciplinary approach)
- The overall metabolic panel is a virtual panel (i.e the gene-panel is generated bioinformatically and is more flexible as it allows further analysis of other genes)
| 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) | |||
| O-glycosylation deficiencies | Contained in a virtual panel | 3-6 months | |
| N-glycosylation deficiencies | Contained in a virtual panel | 3-6 months | |
| Nuclear mitochondrial genes | Contained in a virtual panel | ||
| 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) | |||
| Databases used to link variants with clinical phenotype: Clinvar, Decipher, HGMD (Human Gene Mutation Database), In house
|
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2. Basic metabolite and enzyme testing
| Laboratory Medicine UZ Leuven
In house metabolic laboratory for basic metabolic testing
|
Herestraat 49, Leuven |
| Contact person Pieter Vermeersch
|
pieter.vermeersch@uzleuven.be |
Metabolic Tests |
|
| Type of Test | Name of |
| Amino and organic acids disorders (AOA)
|
|
| Urine | Amino acids quantitative |
| Carnitine Total, Free | |
| Glycerate | |
| Glycolic Acid | |
| Homocitrulline (special assay) | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Organic acids profile | |
| Oxalic acid | |
| Total homocysteine | |
| CSF |
Amino acids
|
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Galactitol (special assay) | |
| Polyols profiling | |
| Sugars qualitative | |
| Fructose qualitative | |
| Plasma | 3-OH-butyrate and acetoacetate
|
| Free fatty acids | |
| Galactose
|
|
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans quantitative |
| L-Cystine | |
| Oligosaccharides TLC | |
| Sialyloligosaccharides TLC | |
| Peroxisomal Disorders (PD) | |
| Plasma
|
7-Dehydrocholesterol |
| Cholesterol | |
| Cholestanol | |
| Very long chain fatty acids- VLCFA | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | L-Pipecolic acid |
| Porphyrins and porphyrin precursors | |
| U-Copper (24h) | |
| Plasma | Porphyrins
p-Copper |
| p-Ceruloplasmin | |
| Faeces | Porphyrins |
| Erythrocytes | Protoporphyrin |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| N-Glycosylation: Capillary electrophoresis | |
| N-Glycosylation: Isoelectric focusing | |
| O-Glycosylation test: Isoelectric focusing | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine | Creatine, creatinine, guanidinoacetate, |
| Plasma | Creatine |
| guanidinoacetate | |
| CSF | Pyruvate/lactate |
Enzyme Tests |
||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Organic Acidurias | no | |
| Aminoacidopathies | no | |
| Urea cycle disorders | ||
| 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 | No | |
| 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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