Diagnostic Overview- Copenhagen University Hospital, Rigshospitalet
Copenhagen University Hospital, Rigshospitalet
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Copenhagen University Hospital, Rigshospitalet
|
Molecular genetics laboratorium
https://www.rigshospitalet.dk/english/departments/centre-of-diagnostic-investigation/department-of-clinical-genetics/Pages/default.aspx
|
| Contact Person Morten Dunoe | Morten.Dunoe@regionh.dk
|
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Whole genome sequencing (WGS)
- Multiplex ligation-dependent probe (MLPA)
- RNA sequencing
- Rapid WES/WGS based gene diagnostics are available as routine diagnostic analysis (1-2 weeks turnaround)
- The genetic laboratory/geneticist collaborates with other professionals on complementing the genetic findings with the clinical and biochemical phenotype (multidisciplinary approach)
- The overall metabolic panel is a virtual panel (i.e the gene-panel is generated bioinformatically and is more flexible as it allows further analysis of other genes)
- The metabolic gene panels consists of 2200 genes.
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Aminoacidopaties | 1-2 weeks | ||
| Urea cycle disorders | 1-2 weeks | ||
| Organic acidurias | 1-2 weeks | ||
| Fatty Acid Oxidation (FAO Disorders) | |||
| FAO disorders | 1-2 weeks | ||
| Glycogen storage diseases (GSD) | 1-2 weeks | ||
| Carbohydrate disorders other than GSD
|
1-2 weeks | ||
| Ketogenesis diorders
|
1-2 weeks | ||
| Ketolysis disorders | 1-2 weeks | ||
| Lysosomal Storage Disorders (LSD) | |||
| Sphingolipidoses | 1-2 weeks | ||
| Gangliosidoses | 1-2 weeks | ||
| Sphingolipid synthesis | 1-2 weeks | ||
| Mucopolysaccharidoses | 1-2 weeks | ||
| Oligosaccharidoses | 1-2 weeks | ||
| Peroxisomal Disorders (PD) | |||
| Single peroxisomal enzyme deficiencies | 1-2 weeks | ||
| Peroxisome biogenesis | 1-2 weeks | ||
| Disorders of Cholesterol Synthesis | 1-2 weeks | ||
| Phospholipid and Glycosphingolipid Synthesis | 1-2 weeks | ||
| N-glycosylation deficiencies | 1-2 weeks | ||
| Neurotransmitter disorders | 1-2 weeks | ||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| Nuclear mitochondrial genes Contained in real panel | 1-2 weeks | ||
| mtDNA genes | 1-2 weeks | ||
| Databases used to link variants with clinical phenotype:
Clinvar, HGMD (Human Gene Mutation Database), Decipher, Locus specific Databases (LSDBs)
|
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2. Basic metabolite and enzyme testing
| Copenhagen University Hospital, Rigshospitalet
In-house metabolic lab (IH)
|
Metabolic Laboratory
https://www.rigshospitalet.dk/english/departments/centre-of-diagnostic-investigation/department-of-clinical-genetics/Pages/default.aspx
|
| Contact person Flemming Wibrand
|
flemming.wibrand@regionh.dk |
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Homocitrulline (special assay) | |
| Organic acids qualitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Succinylacetone | |
| Total homocysteine | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Sugars qualitative |
| Reducing substances | |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans qualitative (screening tests) |
| Glycosaminoglycans quantative | |
| L-Cystine | |
| Mucopolysaccharide electrophoresis/TLC | |
| Sialic acid | |
| Neuraminic acid | |
| Oligosaccharides TLC | |
| Sulfatides | |
| White blood cells | Cystines |
| Peroxisomal Disorders (PD) | |
| Plasma
|
7-Dehydrocholesterol |
| Cholestanol | |
| Phytanic acid | |
| Pristanic acid | |
| Very long chain fatty acids- VLCFA | |
| Erythrocytes | Plasmalogens |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | N-glycosylation: Isoelectronic focusing
|
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | Pipecolic acid |
| Pterines | |
| Purines and pyrimidines | |
| Plasma | Purines and pyrimidines |
| P-Copper | |
| p-Ceruloplasmin | |
| CSF | 3-methoxytyrosine
|
| 5-methyltetrahydrofolate | |
| Neurotransmitters | |
| Pipecolic acid | |
| Pterins | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| CSF | Pyruvate/lactate |
| Urine | Creatine |
| Creatinine | |
| Guanidinoacetate | |
| 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 |
No | |
| Fatty acid oxidation and carnitine transport disorders |
Yes | |
| Disorders of Ketogenesis and Ketolysis | No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | Yes | |
| Mucolipidoses | Yes, measure increased activities of lysosomal enzymes in plasma
|
|
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Yes | |
| Single peroxisomal enzyme deficiencies | Yes | |
| 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 | Yes | |
| 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 | Yes | |
| Respiratory chain disorders | Yes | |
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