Diagnostic Overview – CHU Liège
CHU Liège
Genetic and Basic Metabolite & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| UZ Brussels
|
|
| Contact person Sara Seneca
|
sara.seneca@uzbrussel.be |
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Rapid WES/WGS are available for routine diagnostics (turnaround time 8-10 weeks).
- The genetic laboratory/ geneticists provide(s) feedback on the genetic WES /WGS result in isolation (based on the clinical information sent with the sample)
- The laboratory provides an overall metabolic gene panel and is based on a virtual panel (i.e. the gene-panel is generated bioinformatically and is more flexible as it allows further analysis of other genes). The panel contains 214 genes.
- The turn-around time of the tests below is 3-6 months
Tests that are being offered in this lab
|
| Amino and organic acids disorders (AOA) |
| Aminoacidopaties |
| Organic acidurias |
| Urea cycle disorders |
| Fatty Acid Oxidation (FAO Disorders) |
| Glycogen storage diseases (GSD) |
| Carbohydrate disorders other than GSD |
| Ketogenesis disorders |
| Ketolysis disorders |
| Lysosomal Storage Disorders (LSD) |
| Sphingolipidoses |
| Gangliosidoses |
| Oligosaccharidoses |
| Mucopolysaccharidoses |
| Sphingolipid synthesis |
| Peroxisomal Disorders (PD) |
| Single peroxisomal enzyme deficiencies |
| Peroxisome biogenesis |
| Disorders of Cholesterol Synthesis |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) |
| N-glycosylation deficiencies |
| O-glycosylation deficiencies |
| Neurotransmitter disorders |
| Purine and Pyrimidine metabolism |
| 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) |
| Nuclear mitochondrial genes mtDNA genes |
| mtDNA genes |
| o Policy of the genetic laboratory (as given above) regarding varients of unknown clinical significance (VUS) and incidental findings in case of (trio) exome sequencing: The patient/family are informed by written consent before performing (trio) exome sequencing about the possibility and strategy in case of incidental genetic findings
o Includes an explanation of variants of uncertain significance (VUS) and the policy on how they are reported. Includes information on the possibility of other, unexpected pathogenic findings unrelated to the purpose of the exome sequencing and the option of being informed or not. o In case of a novel mutation the lab does not offer functional analysis |
2. Basic metabolite and enzyme testing
| Biochemical Genetics Laboratory
Combination of in-house and external laboratory
|
https://www.uliege.be/cms/c_8699436/fr/uliege |
| Contact person F. Boemer | F.Boemer@chuliege.be
|
Metabolite Tests
|
||
| Amino and organic acids disorders (AOA) | ||
| Type of Test | Name of Test
|
|
| Urine | Amino acids quantitative | |
| Carnitine, total, free | ||
| Organic acids qualitative | ||
| Organic acids quantative | ||
| Orotic acid | ||
| Oxalate | ||
| S-Sulfocysteine | ||
| Plasma
|
Amino acids quantitative | |
| Acylcarnitines | ||
| Carnitine, free and total | ||
| Succinylacetone | ||
| Total homocysteine | ||
| Dry blood spots | Acylcarnitines | |
| Amino Acids | ||
| CSF | Aminoacids | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Urine | Reducing substances
|
|
| Fructose quantitative | ||
| Plasma | 3-OH-butyrate and acetoacetate
|
|
| Free fatty acids
|
||
| Galactose | ||
| Dry blood spots | Gal and Gal-1P semiquantitative
|
|
| Lysosomal Storage Disorders (LSD) | ||
| Urine
|
Glycosaminoglycans quantative
Mucopolysaccharide electrophoresis/TLC |
|
| Mucopolysaccharide electrophoresis/TLC
|
||
| L-Cystine | ||
| Oligosaccharides TLC
|
||
| Plasma | Dehydrocholesterol Cholestanol Cholesterol Phytanic acid Pristanic acid Very long chain fatty acids- VLCFA |
|
| Peroxisomal Disorders (PD) | ||
| 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
|
|
| 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 |
|
Enzyme Tests |
||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Organic Acidurias | No | |
| Aminoacidopathies | No | |
| Urea cycle disorders | No | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases
|
No | |
| Carbohydrate diseases other than Glycogen storage diseases
|
No | |
| 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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