Diagnostic Overview – University Medical Center Hamburg-Eppendorf
University Medical Center Hamburg- Eppendorf Genetic and Basic Metabolite & Enzyme testing
1. Genetic testing overview
| Institute of Human Genetics | Martinistr. 52, Hamburg – Germany
https://www.uke.de/english/departments-institutes/institutes/human-genetics/index.html |
| Contact Person PD Dr. Maja Hempel | m.hempel@uke.de |
Available molecular techniques:
- Sanger sequencing,
- Whole exome sequencing (WES),
- RNA sequencing,
- qPCR
- Rapid WGS is currently being established for routine diagnostics
- The genetic laboratory/geneticist collaborates with other professionals on complementing the genetic findings with the clinical and biochemical phenotype (multidisciplinary approach)
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Aminoacidopaties | Sanger sequencing available | ||
| Urea cycle disorders | Sanger sequencing available | ||
| Organic acidurias | Sanger sequencing available | ||
| Fatty Acid Oxidation (FAO Disorders) | |||
| FAO disorders | Sanger sequencing available | ||
| Glycogen storage diseases (GSD) | Sanger sequencing available | ||
| Carbohydrate disorders other than GSD
|
Sanger sequencing available | ||
| Ketogenesis disorders | Sanger sequencing available | ||
| Ketolysis disorders | Sanger sequencing available | ||
| Lysosomal Storage Disorders (LSD) | |||
| Sphingolipidoses | Sanger sequencing available | ||
| Gangliosidoses | Sanger sequencing available | ||
| Sphingolipid synthesis | Sanger sequencing available | ||
| Mucopolysaccharidoses | Sanger sequencing available | ||
| Oligosaccharidoses | Sanger sequencing available | ||
| Peroxisomal Disorders (PD) | |||
| Single peroxisomal enzyme deficiencies | Sanger sequencing available | ||
| Peroxisome biogenesis | Sanger sequencing available | ||
| Disorders of Cholesterol Synthesis | Sanger sequencing available | ||
| Bile Acid Synthesis | Sanger sequencing available | ||
| Phospholipid and Glycosphingolipid Synthesis | Sanger sequencing available | ||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| O-glycosylation deficiencies | Sanger sequencing available | ||
| N-glycosylation deficiencies | Sanger sequencing available | ||
| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Porphyrias | Sanger sequencing available | ||
| Neurotransmitter disorders | Sanger sequencing available | ||
| Purine and Pyrimidine metabolism | Sanger sequencing available | ||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| mtDNA genes | Sanger sequencing available | ||
| Nuclear mitochondrial genes | Sanger sequencing available | ||
| * The turnaround time for all the above-mentioned tests is 2-4 weeks | |||
| Databases used to link variants with clinical phenotype: Clinvar, Decipher,HGMD (Human Gene Mutation Database), In house, gnomAD | |||
2. Basic metabolite and enzyme testing
| Arbeitsbereich Neugeborenenscreening und Stoffwechseldiagnostik
In house metabolic laboratory
|
Martinistr. 52 Hamburg, Germany
https://www.uke.de/english/departments-institutes/centers/diagnostics/index.html |
| Contact person Prof. Dr. R. Santer | r.santer@uke.de |
Metabolite Tests |
|
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Amino acids quantitative | |
| Homocitrulline (special assay) | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic acids profile | |
| Succinylacetone | |
| Total homocysteine | |
| Dry blood spots | Acylcarnitines |
| Amino acids | |
| Total homocysteine | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Sugars qualitative | |
| Plasma | 3-OH-butyrate and acetoacetate |
| Galactose | |
| Dry blood spots | Gal and Gal-1P semiquantitative |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans qualitative (screening tests) |
| Glycosaminoglycans quantitative | |
| L-Cystine | |
| Oligosaccharides TLC | |
| Sialyloligosaccharides TLC | |
| Sulfatides | |
| White blood cells | Cystine |
| Peroxisomal Disorders (PD) | |
| Plasma
|
Cholesterol, |
| Very long chain fatty acids- VLCFA | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | N-Glycosylation: Capillary electrophoresis, |
| N-Glycosylation: Isoelectric focusing | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
Porphyrins and porphyrin precursors |
| U-Copper (24h) | |
| Plasma | p-Copper |
| p-Ceruloplasmin | |
| CSF | N-acetylaspartylglutamic acid (NAAG), |
| Erythrocytes: | Protoporphyrin |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine | Creatine, |
| creatinine, | |
| guanidinoacetate, | |
| CSF | Pyruvate/lactate |
Enzyme Tests |
||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | No | |
| 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 |
No | |
| 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 | 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
Previous Content
Web by EFFIGE 2.0