Erasmus MC, University Medical Center, Rotterdam
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Clinical Genetics
In-house metabolic laboratory
|
https://www.erasmusmc.nl/nl-nl/patientenzorg/laboratoriumspecialismen/klinische-genetica |
| Contact person G.J. Ruijter
|
loket.klinischegenetica@erasmusmc.nl
|
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Multiplex ligation-dependent probe (MLPA)
- RNA sequencing,
- Rapid WGS is currently are available for routine diagnostics (turnaround time 4-6 weeks).
- The genetic laboratory/geneticist collaborates with other professionals on complementing the genetic findings with the clinical and biochemical phenotype (multidisciplinary approach)
- Metabolic gene panel is based on a virtual panel of 701 genes (i.e. the gene-panel is generated bioinformatically and is more flexible as it allows further analysis of other genes).
2. Basic metabolite and enzyme testing
| Laboratory of Genetics
In-house metabolic laboratory
|
https://www.erasmusmc.nl/nl-nl/patientenzorg/laboratoriumspecialismen/klinische-genetica |
| Contact person G.J. Ruijter
|
loket.klinischegenetica@erasmusmc.nl
|
| Metabolite Tests | |
| Type of Test | Name of Test
|
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Amino acids quantitative | |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| 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 | |
| Methylmalonic acid (MMA) | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Total homocysteine | |
| Dry blood spots | Acylcarnitines |
| Aminoacids | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Polyols profiling
|
| Reducing substances | |
| Galactitol (special assay) | |
| Polyols profiling | |
| Sugars qualitative | |
| Fructose quantitative
|
|
| Plasma | 3-OH-butyrate and acetoacetate |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans quantitative |
| L-Cystine | |
| Sialic acid | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Tetraglucoside (biomarker for glycogen storage disorders)
|
|
| CSF | Sialic acid
|
| Peroxisomal Disorders (PD) | |
| Plasma
|
Phytanic acid |
| Pristanic acid | |
| Very long chain fatty acids- VLCFA | |
| Urine | Bile acid metabolites |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma, N-Glycosylation | N-Glycosylation: Isoelectric focusing
|
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | Alpha-aminoadipic semialdehyde |
| L-Pipecolic acid | |
| Porphyrins and porphyrin precursors | |
| Purines and pyrimidines | |
| 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) | |
| Aminoacidopathies | Yes |
| Organic Acidurias | Yes |
| 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 | Yes |
| Oligosaccharidosis | Yes |
| Mucolipidoses | Yes |
| Lysosomal glycogen storage disease (Pompe disease) | Yes |
| 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 | Yes |
| 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 | Yes |
| TCA-cycle enzymes | Yes |
| Respiratory chain disorders | Screening FGF21 |
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