Diagnostic Overview – Sahlgrenska University Hospital and Sahlgrenska Academy at the University of Gothenburg
Sahlgrenska University Hospital and Sahlgrenska Academy at the University of Gothenburg
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Sahlgrenska University Hospital and Sahlgrenska
Academy at the University of Gothenburg
|
Center for Medical Genomics
https://www.scilifelab.se/facilities/clinical-genomics-goteborg/ |
| Contact Person Mattias Abom | mattias.abom@vgregion.se
|
Available molecular techniques:
- Sanger sequencing,
- Whole exome sequencing (WES),
Whole genome sequencing (WGS) - Multiplex ligation-dependent probe (MLPA)
- 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)
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Aminoacidopaties | 4-8 weeks | ||
| Urea cycle disorders | 4-8 weeks | ||
| Organic acidurias | 4-8 weeks | ||
| Fatty Acid Oxidation (FAO Disorders) | |||
| FAO disorders | 4-8 weeks | ||
| Glycogen storage diseases (GSD) | 4-8 weeks | ||
| Carbohydrate disorders other than GSD
|
4-8 weeks | ||
| Ketogenesis diorders
|
4-8 weeks | ||
| Ketolysis disorders | 4-8 weeks | ||
| Lysosomal Storage Disorders (LSD) | |||
| Sphingolipidoses | 4-8 weeks | ||
| Gangliosidoses | 4-8 weeks | ||
| Sphingolipid synthesis | 4-8 weeks | ||
| Mucopolysaccharidoses | 4-8 weeks | ||
| Oligosaccharidoses | 4-8 weeks | ||
| Peroxisomal Disorders (PD) | |||
| Single peroxisomal enzyme deficiencies | 4-8 weeks | ||
| Peroxisome biogenesis | 4-8 weeks | ||
| Disorders of Cholesterol Synthesis | 4-8 weeks | ||
| Phospholipid and Glycosphingolipid Synthesis | 4-8 weeks | ||
| N-glycosylation deficiencies | 4-8 weeks | ||
| Neurotransmitter disorders | 4-8 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 | 4-8 weeks | ||
| mtDNA genes | 4-8 weeks | ||
| Databases used to link variants with clinical phenotype:
Clinvar, HGMD (Human Gene Mutation Database), GnomAD, Alamut |
|||
2. Basic metabolite and enzyme testing
| Sahlgrenska University Hospital and Sahlgrenska Academy at the University of Gothenburg
In-House laboratory |
Department of Clinical Chemistry
https://www.gu.se |
| Contact person L Jorge Asin Cayuela
|
sofia.ernerot@vgregion.se
|
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Glycolic Acid | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Succinylacetone | |
| Total homocysteine | |
| Dry blood spots | Amino acids |
| Acylcarnitines | |
| Total homocysteine | |
| Methylmalonic acid | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Sugars qualitative | |
| Plasma | Free fatty acids |
| 3-OH-butyrate and acetoacetate | |
| Dry blood spots | Gal and Gal-1P semiquantitative |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans quantitative |
| L-Cystine, | |
| Mucopolysaccharide electrophoresis/TLC | |
| Sialic acid | |
| Oligosaccharides TLC | |
| Sialyloligosaccharides TLC | |
| Sulfatides | |
| Lyso-Gb3 | |
| CCL18 | |
| Glucosylceramide | |
| Hexosylsphingosine (LysoGL1) | |
| Plasma | IgG antibodies against recombinant enzymes (for MPS I, MPS II, MPS IVa, MPS VI, Fabry, Gaucher and Pompe). |
| Neutralizing antibodies, Fabry | |
| Peroxisomal Disorders (PD) | |
| Plasma
|
7-Dehydrocholesterol |
| Cholestanol | |
| Phytanic acid | |
| Pristanic acid | |
| Pipecolic acid | |
| Very long chain fatty acids- VLCFA | |
| Erythrocytes | Plasmalogens |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | N-glycosylation: HPLC
|
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | U-copper (24h) |
| Plasma | p-Copper |
| p-Ceruloplasmin | |
| CSF | Pipecolic acid |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| CSF | Pyruvate/lactate |
| Enzyme Tests | ||
| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | Yes | |
| Organic Acidurias | Yes | |
| 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
|
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 | 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 | Yes | |
| 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 | |
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