Diagnostic Overview – Karolinska University Hospital
Karolinska University Hospital
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| The lab provides genetic investigations including Sanger sequencing and next generation sequencing/whole genome seq/NGS panels, seq of the entire mitochondrial genome, biochemical and molecular diagnostics for mitochondrial disorders. | |
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Fatty Acid Oxidation (FAO Disorders) | |||
| Lysosomal Storage Disorders (LSD) | |||
| Peroxisomal Disorders (PD) | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
2. Basic metabolite and enzyme testing
| Karolinska University Hospital
In-house metabolic lab (IH) |
CMMS
|
| Contact person Anne Wedell
|
anna.wedell@ki.se
|
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Amino acids quantitative | |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Glycolic Acid | |
| Homocitrulline (special assay) | |
| Organic acids quantitative | |
| Organic acids qualitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic acids profile | |
| Oxalic acid | |
| Succinylacetone | |
| Total homocysteine | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Dry blood spots | Amino acids |
| Acylcarnitines | |
| Total homocysteine | |
| Methylmalonic acid | |
| CSF | Aminoacids |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Galactitol (special assay) | |
| Fructose quantitative | |
| Sugars qualitative | |
| Plasma | Free fatty acids |
| 3-OH-butyrate and acetoacetate | |
| Galactose | |
| Dry blood spots | Gal and Gal-1P semiquantitative |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans quantitative |
| Glycosaminoglycans qualitative | |
| L-Cystine | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Sulfatides | |
| Samples regarding LSD disorders are send to a lab in Gothenburg | |
| Peroxisomal Disorders (PD) | |
| Plasma
|
Cholesterol |
| Phytanic acid | |
| Very long chain fatty acids- VLCFA | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | N-glycosylation: Mass spectomotry |
| O-glycosylation: Mass spectomotry | |
| Samples send to Gothenburg | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | L-Pipecolic acid |
| Porphyrins and porphyrin precursors | |
| Purines and pyrimidines | |
| Plasma | Porphyrins |
| Purines and pyrimidines | |
| p-Ceruloplasmin | |
| Faeces | Porphyrins |
| Erythrocytes | Protoporphyrin |
| Csf neurotransmitters analysed in Gothenburg
|
|
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine | Creatine |
| Creatinine | |
| Guanidinoacetate | |
| Plasma | Creatine |
| Guanidinoacetate | |
| CSF | Pyruvate/lactate |
| Enzyme Tests | ||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | No | |
| Organic Acidurias | 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 | Yes | |
| Mucolipidoses | Yes | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Yes | |
| Single peroxisomal enzyme deficiencies | Yes | |
| Disorders of Cholesterol synthesis | Yes | |
| Bile Acid Synthesis | No | |
| Phospholipid and Glycosphingolipid Synthesis | Yes | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | Samples are send to Gothenburg | |
| O-glycosylation disorders | Samples are send to Gothenburg | |
| 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 | No | |
| TCA-cycle enzymes | Yes | |
| Respiratory chain disorders | Yes | |
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