Diagnostic Overview – Hannover Medical School
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Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
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No data was provided |
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Available molecular techniques:
No data was provided
| Clinical Chemistry, Hannover Medical School
Combination of in-house and external laboratory
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https://www.mhh.de |
| Contact person Prof. Lichtinghagen
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klinische.chemie@mh-hannover.de
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Metabolite Tests |
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| Type of Test | Name of Test
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| Amino and organic acids disorders (AOA) | ||
| Urine | Amino acids qualitative | |
| Amino acids quantitative | ||
| Carnitine, total, free | ||
| Organic acids qualitative | ||
| Organic acids quantative | ||
| Glycerate | ||
| Glycolic acid | ||
| Homocitrulline (special assay) | ||
| Orotic acid | ||
| Oxalate | ||
| Trimetylamine | ||
| Succinylacetone | ||
| Sulfite test | ||
| Plasma
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Amino acids quantitative | |
| Carnitine, free and total | ||
| Organic acids profile | ||
| Oxalic acid | ||
| Total homocysteine | ||
| Dry blood spots | Acylcarnitines | |
| Amino Acids | ||
| Methylmalonic acid | ||
| CSF | Aminoacids | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Plasma | 3-OH-butyrate and acetoacetate
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| Dry blood spots | Gal and Gal-1P semiquantitative
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| Lysosomal Storage Disorders (LSD) | ||
| Urine
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Glycosaminoglycans qualitative (screening tests)
Mucopolysaccharide electrophoresis/TLC |
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| Plasma/ EDTA | Lyso-Gb3
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| White blood cells | Cystine | |
| Peroxisomal Disorders (PD) | ||
| –
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– | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| Plasma, N-Glycosylation | Isoelectric focusing
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| Plasma, O-Glycosylation | Isoelectric focusing
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| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Urine
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Porphyrins and porphyrin precursors
Purines and pyrimidines
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| Plasma | Porphyrins
p-Ceruloplasmin
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| Erythrocytes
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Protoporphyrin | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Urine
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Creatine
Creatinine guanidinoacetate
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| Plasma | Creatine guanidinoacetate | |
| CSF | Pyruvate/lactate
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Enzyme Tests |
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| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Organic Acidurias | Yes | |
| Aminoacidopathies | No | |
| Urea cycle disorders | No | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases
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Yes | |
| Carbohydrate diseases other than Glycogen storage diseases
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No | |
| Fatty acid oxidation and carnitine transport disorders
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No | |
| Disorders of Ketogenesis and Ketolysis
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No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
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No | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | No | |
| Mucolipidoses | No | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | No
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| Single peroxisomal enzyme deficiencies | No
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| Disorders of Cholesterol synthesis | No | |
| Bile Acid Synthesis | No
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| Phospholipid and Glycosphingolipid Synthesis | No
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| 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 | 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 | Yes | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | Yes | |
Copyright ©2017-2021 all rights reserved