Diagnostic Overview – Medical Center University of Freiburg
Copyright ©2017-2021 all rights reserved
Previous Content
Web by EFFIGE 2.0
Genetic and Basic Metabolite & Enzyme testing
| No data was provided | |
Available molecular techniques:
| 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) | |||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| 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) | |||
| Metabolic Laboratory Freiburg | https://ims.uniklinik-freiburg.de/en/medical-services/clinics-and-divisions/institute-for-clinical-chemistry-and-laboratory-medicine-lipid-metabolism-center.html
|
| Contact person Sara Tucci | sara.tucci@uniklinik-freiburg.de |
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative, |
| Carnitine Total, Free, | |
| Formiminoglutamic acid (FIGLU), | |
| Glycerate, | |
| Glycolic Acid, | |
| Organic acids qualitative, | |
| Organic acids quantitative, | |
| Orotic acid, | |
| Succinylacetone, | |
| Sulfite test, | |
| S-Sulfocysteine, | |
| Plasma
|
Plasma: Amino acids quantitative, |
| Plasma: Acylcarnitines, | |
| Plasma: Carnitine, free and total, | |
| Plasma: Methylmalonic acid (MMA), | |
| Plasma: Organic acids profile, | |
| Plasma: Total homocysteine, | |
| Plasma: S-adenosylhomocysteine, | |
| Plasma: S-adenosylmethionine, | |
| Dry blood spots | Acylcarnitines, |
| Total homocysteine, | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances, |
| Galactitol (special assay), | |
| Polyols profiling, | |
| Sugars qualitative | |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans qualitative (screening tests) |
| Glycosaminoglycans quantitative, | |
| Mucopolysaccharide electrophoresis/TLC | |
| Peroxisomal Disorders (PD) | |
| Plasma
|
7-Dehydrocholesterol, |
| Cholesterol, | |
| Phytanic acid, | |
| Very long chain fatty acids- VLCFA | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma, N-Glycosylation | N-Glycolysation HPLC (sialotransferrins) |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
Alpha-aminoadipic semialdehyde, |
| U-Copper (24h) | |
| Plasma | Alpha-aminoadipic semialdehyde, |
| Plasma: Purines/pyrimidines, | |
| Plasma: p-Copper, | |
| Plasma: p-Ceruloplasmin | |
| 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 | Yes | |
| Aminoacidopathies | Yes | |
| 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
|
Yes | |
| Disorders of Ketogenesis and Ketolysis
|
No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses | Yes | |
| Peroxisomal Disorders (PD) | ||
| – | – | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| – | – | |
| 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) | ||
| – | – | |
Copyright ©2017-2021 all rights reserved