Diagnostic Overview – University Medical Centre Ljubljana
University Medical Centre Ljubljana
Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Medical genetics
A mixture of in-house and external genetic laboratories
|
Sluzba za specialno laboratorijsko diagnostiko |
| Contact person
|
mirjana.zupancic@kclj.si
|
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Multiplex ligation-dependent probe (MLPA)
- Rapid WES/WGS based gene diagnostics are available as research project; the turnaround time is 6-8 weeks.
- The genetic laboratory/ geneticists provides feedback on the genetic WES /WGS result in isolation (based on the clinical information sent with the sample)
- The overall genetic panel is available and consist of 90 genes. The LSD panel, mito nuclear and mitochondrial panel; DNA analyses abroad. 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) .
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Aminoacidopaties | 1-2 weeks | ||
| Organic acidurias | 1-2 weeks | ||
| Urea cycle disorders
|
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 | 3-6 months | ||
| Ketogenesis diorders | 3-6 months | ||
| Ketolysis disorders | 3-6 months | ||
| Lysosomal Storage Disorders (LSD) | |||
| Sphingolipidoses | 3-6 months | ||
| Gangliosidoses | 3-6 months | ||
| Oligosaccharidoses | 3-6 months | ||
| Sphingolipid synthesis | 3-6 months | ||
| Mucopolysaccharidoses | 3-6 months | ||
| Peroxisomal Disorders (PD) | |||
| Bile Acid Synthesis | 3-6 months | ||
| Single peroxisomal enzyme deficiencies | 3-6 months | ||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| O-glycosylation deficiencies | >6 months | ||
| N-glycosylation deficiencies | >6 months | ||
| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Porphyrias | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| Nuclear mitochondrial genes | >6 months | ||
| Databases used: Clinvar, Decipher, HGMD (Human Gene Mutation Database) | |||
Basic metabolic and enzyme testing
| Unit of Special Laboratory Diagnostics
Mixture of in-house and external laboratories |
https://www.onko-i.si/eng/sectors/medical_care_sector/division_of_diagnostics/department_of_laboratory_diagnostics |
| Contact person Barbka RepičLampret | endo.pek@kclj.si
|
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Organic acids qualitative | |
| Orotic acid | |
| Oxalate | |
| Sulfite test | |
| Plasma
|
Amino acids quantitative |
| Carnitine, free and total | |
| Total homocysteine | |
| Dry blood spots | Acylcarnitines |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Sugars qualitative | |
| Plasma | Free fatty acids |
| Galactose | |
| 3-OH-butyrate and acetoacetate | |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans quantitative |
| L-Cystine | |
| Peroxisomal Disorders (PD) | |
| No information provided | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma, N-Glycosylation | Capillary electrophoresis
|
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
Porphyrins and porphyrins precursors |
| U-Copper (24h) | |
| Plasma | p-Ceruloplasmin |
| p-Copper | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| CSF | Pyruvate/lactate |
2. Enzyme Tests |
||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Organic Acidurias | No | |
| Aminoacidopathies | No | |
| 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
|
No | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | No | |
| Mucolipidoses | No | |
| Lysosomal glycogen storage disease (Pompe disease) | No | |
| 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 | |
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