Diagnostic Overview – Academic Medical Center Amsterdam
Academic Medical Center Amsterdam
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| No information was provided |
|
Available molecular techniques:
No information was provided
| 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) | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
2. Basic metabolite and enzyme testing
| Academic Medical Center Amsterdam
|
Lab GMD Amsterdan UMC
|
| Contact Person G. Salomons
In-house metabolic lab (IH)
|
gmz_metab@amc.nl
|
Metabolite Tests |
|
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Amino acids qualitative | |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Glycolic Acid | |
| Homocitrulline (special assay) | |
| Methylmalonic acid | |
| 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) | |
| Organic Acids profile | |
| Oxalic acid | |
| Total homocysteine | |
| Succinylacetone | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| CSF | Aminoacids |
| S-adenosylhomocysteine | |
| S-adenosylmethionine
|
|
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Galactitol (special assay) |
| Polyols profiling | |
| Sugars qualitative | |
| Fructose quantitative | |
| Plasma | 3-OH-butyrate and acetoacetate |
| Free fatty acids | |
| Galactose
|
|
| CSF | Polyols |
| Sugars | |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans qualitative (screening tests) |
| Glycosaminoglycans quantitative | |
| L-Cystine | |
| Mucopolysaccharide electrophoresis/TLC | |
| Sterol biosynthesis intermediates | |
| Sialic acid | |
| Neuraminic acid | |
| Oligosaccharides TLC | |
| Sialyloligosaccharides TLC | |
| Sulfatides | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Plasma | Glycosylsphingosine |
| Lyso-Gb3 | |
| CCL18 | |
| Glucosylceramide | |
| Hexosylsphingosine (LysoGL1) | |
| Sialic acid | |
| White blood cells | Cystine |
| CSF | Sialic acid |
| Peroxisomal Disorders (PD) | |
| Urine | Bile acid metabolites |
| Sterol biosynthesis intermediates | |
| Plasma | 7-Dehydrocholesterol |
| 7-Ketocholesterol | |
| Cholestane-3,5,6-triol | |
| Cholestanol | |
| Cholesterol | |
| Phytanic acid | |
| Plasmalogens | |
| Pristanic acid | |
| Sterol biosynthesis intermediates | |
| Very long chain fatty acids- VLCFA | |
| Erythrocytes | Plasmalogens |
| Fibroblasts | VLCFA |
| 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 |
| L-Pipecolic acid | |
| Neurotransmitters | |
| Pterines | |
| Purines and pyrimidines
|
|
| Plasma | Alpha-aminoadipic semialdehyde |
| Purines/pyrimidines | |
| p-Copper | |
| CSF | 3-methoxytyrosine |
| 5-methyltetrahydrofolate | |
| Alpha-aminoadipic semialdehyde | |
| N-acetylaspartylglutamic acid (NAAG) | |
| Neurotransmitters | |
| Pipecolic acid | |
| Pterins | |
| 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
|
| 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 | No | |
| 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 |
Yes | |
| Disorders of Ketogenesis and Ketolysis | Yes | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | Yes | |
| Mucolipidoses | Yes | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Yes | |
| Single peroxisomal enzyme deficiencies | Yes | |
| Disorders of Cholesterol synthesis | Yes | |
| 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 | Yes | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Creatine metabolism | Yes | |
| Pyruvate dehydrogenase | No | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | No | |
Copyright ©2017-2021 all rights reserved
Previous Content
Web by EFFIGE 2.0