Diagnostic Overview – University Medical Center Utrecht (UMCU)
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Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
| Laboratory of Genetics UMCU
|
https://www.umcutrecht.nl/en/hospital/about-us |
| Contact person Dr. K.L.I. van Gassen
|
K.L.I.vanGassen-2@umcutrecht.nl
|
Available molecular techniques:
| Department of Metabolic Diagnostics
For enzyme testing both in-house and external laboratory |
https://www.umcutrecht.nl/en/hospital/about-us |
| Contact person Verhoeven-Duif, Nanda | n.verhoeven@umcutrecht.nl
|
Metabolite Tests |
|
| Type of Test | Name of Test
|
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Amino acids quantitative | |
| Glycerate, Glycolic Acid |
|
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| S-Sulfocystein | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic acids profile | |
| Oxalic acid | |
| Succinylacetone | |
| Total homocysteine | |
| Dry blood spots | Acylcarnitines |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Polyols profiling
|
| Sugars qualitative | |
| Fructose quantitative
|
|
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans quantitative
L-Cystine, Oligosaccharides TLC
|
| CSF | Sialic acid
|
| Peroxisomal Disorders (PD) | |
| Plasma
|
Plasma: 7-Dehydrocholesterol,
Cholestanol, Phytanic acid, Pristanic acid, Sterol biosynthesis intermediates Very long chain fatty acids- VLCFA |
| Urine | Bile acid metabolites |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma, N-Glycosylation | Isoelectric focusing
|
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
Alpha-aminoadipic semialdehyde
Pterines Purines and pyrimidines Alpha-aminoadipic semialdehyde
|
| Plasma | 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) | |
| Aminoacidopathies | Yes |
| Organic Acidurias | No |
| Urea cycle disorders | Yes |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Glycogen storage diseases |
– |
| Carbohydrate diseases other than Glycogen storage diseases |
– |
| Fatty acid oxidation and carnitine transport disorders |
– |
| Disorders of Ketogenesis and Ketolysis | – |
| Lysosomal Storage Disorders (LSD) | |
| Mucopolysaccharidoses | – |
| Sphingolipidoses | – |
| Oligosaccharidosis | – |
| Mucolipidoses | – |
| Lysosomal glycogen storage disease (Pompe disease) | – |
| 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 | Yes |
| 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 |
Copyright ©2017-2021 all rights reserved