Diagnostic Overview – Oslo University Hospital
Oslo University Hospital- Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Department of Medical Genetics, Oslo University Hospital
|
https://www.med.uio.no/klinmed/english/about/organization/divisions/laboratory-medicine/medical-genetics/ |
| Contact person Lars Retterstøl | lretters@ous-hf.no
|
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Whole genome sequencing (WGS)
- Multiplex ligation-dependent probe (MLPA), RNA sequencing
- 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)
- Metabolic gene panel contains 1117 genes; based on a virtual panel (i.e. the gene-panel is generated bioinformatically and is more flexible as it allows further analysis of other genes)
- The turnaround time for all the above-mentioned tests is 3-6 months
- All in silico gene panels can be prioritized upon request, with TAT 2-4 weeks
- Databases used to link variants with clinical phenotype: Clinvar, Decipher,HGMD (Human Gene Mutation Database), Locus specific Databases (LSDBs), In house
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Aminoacidopaties | |||
| Urea cycle disorders | |||
| Organic acidurias | |||
| Fatty Acid Oxidation (FAO Disorders) | |||
| Glycogen storage diseases (GSD) | |||
| Carbohydrate disorders other than GSD
|
|||
| Ketogenesis disorders | |||
| Ketolysis disorders | |||
| Lysosomal Storage Disorders (LSD) | |||
| Sphingolipidoses | |||
| Gangliosidoses | |||
| Sphingolipid synthesis | |||
| Mucopolysaccharidoses | |||
| Oligosaccharidoses | |||
| Peroxisomal Disorders (PD) | |||
| Single peroxisomal enzyme deficiencies | |||
| Peroxisome biogenesis | |||
| Disorders of Cholesterol Synthesis | |||
| Bile Acid Synthesis | |||
| Phospholipid and Glycosphingolipid Synthesis | |||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| O-glycosylation deficiencies | |||
| N-glycosylation deficiencies | |||
| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Porphyrias | |||
| Neurotransmitter disorders | |||
| Purine and Pyrimidine metabolism | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| mtDNA genes | |||
| Nuclear mitochondrial genes | |||
| * The turnaround time for all the above-mentioned tests is 3-6 months
* All in silico gene panels can be prioritized upon request, with TAT 2-4 weeks. |
|||
| Databases used to link variants with clinical phenotype: Clinvar, Decipher, HGMD (Human Gene Mutation Database), Locus specific Databases (LSDBs), In house |
|||
2. Basic metabolite and enzyme testing
| Norwegian National Unit for Diagnostics of Congenital Pediatric Metabolic Disorders
In house metabolic laboratory
|
Sognsvannsveien 20, 0372 Oslo
|
| Contact person Berit Woldseth | labdesk@ous-hf.no
|
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Organic acids qualitative | |
| Orotic acid | |
| Oxalate | |
| Sulfite test | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Oxalic acid | |
| Total homocysteine | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| CSF | S-adenosylhomocysteine
|
| S-adenosylmethionine | |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Sugars qualitative | |
| Plasma | Free fatty acids |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans quantitative |
| L-Cystine | |
| Mucopolysaccharide electrophoresis/TLC | |
| White blood cells | Cystine |
| 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 | Capillary electrophoresis |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
Purines and pyrimidines |
| U-Copper (24h) | |
| Plasma | p-Ceruloplasmin |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine + plasma | Creatine |
| Creatinine | |
| Guanidinoacetate | |
| CSF | Pyruvate/lactate |
| Enzyme Tests | ||
| 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 |
Yes | |
| Carbohydrate diseases other than Glycogen storage diseases |
Yes | |
| Fatty acid oxidation and carnitine transport disorders |
Yes | |
| Disorders of Ketogenesis and Ketolysis | No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | No | |
| Mucolipidoses | No | |
| 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 | Yes | |
| TCA-cycle enzymes | Yes | |
| Respiratory chain disorders | Yes | |
Copyright ©2017-2021 all rights reserved
Previous Content
Web by EFFIGE 2.0