Diagnostic Overview – University Hospital Antwerpen (UZA)
University Hospital of Antwerp UZA
Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Medical genetics UZA
Multiple external genetic laboratories |
https://www.genetica-antwerpen.be |
| Contact person Geert Mortier
Prins Boudewijnlaan 43/6
|
medische.genetica@uza.be
|
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Multiplex ligation-dependent probe (MLPA)
- Cytogenetics
- NIPT
- Rapid WES/WGS based gene diagnostics are available as research project; the turnaround time is 6 months.
- The genetic laboratory/ geneticists provides feedback on the genetic WES /WGS result in isolation (based on the clinical information sent with the sample)
- The overall genetic panel is available and consist of 15 genes. The LSD panel, mito nuclear and mitochondrial panel; DNA analyses abroad.
- The overall metabolic panel is a real panel (i.e a fixed number of genes that are physically isolated and sequenced)
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Aminoacidopaties | |||
| Fatty Acid Oxidation (FAO Disorders) | |||
| Carbohydrate disorders other than GSD
|
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| Lysosomal Storage Disorders (LSD) | |||
| Sphingolipidoses | |||
| Gangliosidoses | |||
| Mucopolysaccharidoses | |||
| Oligosaccharidoses | |||
| Peroxisomal Disorders (PD) | |||
| Bile Acid Synthesis | |||
| Peroxisome biogenesis | |||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| O-glycosylation deficiencies | |||
| N-glycosylation deficiencies | |||
| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Porphyrias | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| mtDNA genes | |||
| Nuclear mitochondrial genes | |||
| * The turnaround time for all the above-mentioned tests is 3-6 months except the mtDNA genes which is 8-12 weeks
|
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2. Basic metabolite and enzyme testing
| CBAA UZA
In house metabolic laboratory for basic metabolic testing Both in- house and external laboratories for enzyme analysis
|
Wilrijkstraat 10, Antwerpen
|
| Contact person Laurence Roosens | cbaa@uza.be
|
Metabolite 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 quantative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic acids profile | |
| Oxalic acid | |
| Total homocysteine | |
| Succinylacetone | |
| Dry blood spots | Amino acids |
| Acylcarnitines | |
| Total homocysteine | |
| Methylmalonic acid | |
| CSF | Amino acids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Polyols profiling | |
| Sugars qualitative | |
| Plasma | 3-OH-butyrate and acetoacetate
|
| Free fatty acids | |
| Galactose
|
|
| Dry blood spots | Gal and Gal-1P semiquantitative
|
| CSF | Sugars |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans quantitative (screening test) |
| Glycosaminoglycans quantitative
|
|
| L-Cystine | |
| Oligosaccharides TLC | |
| Peroxisomal Disorders (PD) | |
| Plasma/EDTA | Lyso-Gb3
|
| Plasma
|
7-Dehydrocholesterol
|
| Cholesterol | |
| Cholestanol | |
| Very long chain fatty acids- VLCFA | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| – | – |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Urine
|
Alpha-aminoadipic semialdehyde |
| Purines and pyrimidines | |
| U-Copper (24h) | |
| Plasma | p-Ceruloplasmin |
| CSF | Alpha-aminoadipic semialdehyde |
| 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) | ||
| Organic Acidurias | Yes | |
| Aminoacidopathies | Yes (with UMCG + UMC/Netherlands) | |
| Urea cycle disorders | Yes | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases |
Yes | |
| Carbohydrate diseases other than Glycogen storage diseases |
Yes | |
| Fatty acid oxidation and carnitine transport disorders |
Yes | |
| Disorders of Ketogenesis and Ketolysis
|
No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | No | |
| Oligosaccharidosis | No | |
| Mucolipidoses | No | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Yes (in collaboration with UMC Amsterdam)
|
|
| Single peroxisomal enzyme deficiencies | Yes (in collaboration with UMC Amsterdam) | |
| Disorders of Cholesterol synthesis | No | |
| Bile Acid Synthesis | Yes | |
| Phospholipid and Glycosphingolipid Synthesis | Yes | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | Yes (in cooperation with UZ-Leuven) | |
| O-glycosylation disorders | Yes (in cooperation with UZ-Leuven) | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Neurotransmitter disorders | Yes | |
| Porphyrias | Yes, in collaboration with UZ-Leuven AND UMC-Rotterdam | |
| Disorders of Purine and pyrimidine metabolism | Yes, in collaboration with UMC Amsterdam | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Creatine metabolism | No | |
| Pyruvate dehydrogenase | Yes, PDH complex in collaboration with UZ Brussel | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | Yes, in collaboration with UZ Gent | |
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