Diagnostic Overview – Hospital Senhora da Oliveira – Guimarães
Hospital Senhora da Oliveira – Guimarães
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
Genetic testing overview
| Hospital Senhora da Oliveira – Guimarães
A single genetic external laboratory
|
National Institute of Health
|
| Contact Person Ana Dias | ana.m.dias@insa.min-saude.pt
|
Available molecular techniques:
- Sanger sequencing,
- Multiplex ligation-dependent probe (MLPA)
- NGS Panels
- Next generation sequencing
- Rapid WES/WGS based gene diagnostics are available as a research project.
- 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 real panel (i.e a fixed number of genes that are physically isolated and sequenced).
- The turn-around time for all the tests below is 2-4 weeks
| Tests that are being offered in this lab | ||||||
| Amino and organic acids disorders (AOA) | ||||||
| Aminoacidopaties | Contained in real panel | |||||
| Urea cycle disorders | Contained in real panel | |||||
| Organic acidurias | Contained in real panel | |||||
| Fatty Acid Oxidation (FAO Disorders) | ||||||
| FAO disorders | Contained in real panel | |||||
| Glycogen storage diseases (GSD) | Contained in real panel | |||||
| Carbohydrate disorders other than GSD
|
Contained in real panel | |||||
| Ketogenesis diorders
|
Contained in real panel | |||||
| Ketolysis disorders | Contained in real panel | |||||
| Lysosomal Storage Disorders (LSD) | ||||||
| Sphingolipidoses | Contained in real panel | |||||
| Gangliosidoses | Contained in real panel | |||||
| Sphingolipid synthesis | Contained in real panel | |||||
| Mucopolysaccharidoses | Contained in real panel | |||||
| Oligosaccharidoses | Contained in real panel | |||||
| Peroxisomal Disorders (PD) | ||||||
| Single peroxisomal enzyme deficiencies | Contained in real panel | |||||
| Peroxisome biogenesis | Contained in real panel | |||||
| Disorders of Cholesterol Synthesis | Contained in real panel | |||||
| Phospholipid and Glycosphingolipid Synthesis | Contained in real panel | |||||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||||||
| Nuclear mitochondrial genes | Sanger sequencing available | |||||
| mtDNA genes | Sanger sequencing available | |||||
| NOMS (Neuromodulators and other small molecules) | ||||||
| Neurotransmitter disorders | Contained in real panel | |||||
| Porphyrias | Sanger sequencing available | |||||
| Purine and Pyrimidine metabolism | Sanger sequencing available | |||||
| Databases used to link variants with clinical phenotype:
Clinvar, HGMD (Human Gene Mutation Database), OMIM; HPO |
||||||
Basic metabolite and enzyme testing
| External laboratory | Instituto Nacional de Saúde Doutor Ricardo Jorge
https://www.gu.se |
| Contact person Ana Dias
|
ana.m.dias@insa.min-saude.pt
|
| Metabolite Tests | |
| Type of Test | Name |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantative |
| Amino acids qualitative | |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Glycolic Acid | |
| Organic acids quantitative | |
| Organic acids qualitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| Sulfite test | |
| S-Sulfocysteine | |
| Trimetylamine | |
| Plasma
|
Amino acids quantitative |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic acids profile | |
| Oxalic acid | |
| Succinylacetone | |
| Total homocysteine | |
| Dry blood spots | Amino acids quantative |
| Acylcarnitines | |
| Methylmalonic acid (MMA) | |
| Total homocysteine | |
| CSF | Aminoacids |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Galactitol (special assay) | |
| Sugar quantitative | |
| Fructose quantitative | |
| Plasma | Galactose |
| Dry blood spots | Gal and Gal-1P semiquantitative |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans quantitative |
| Glycosaminoglycans qualitative (screening tests) | |
| L-Cystine | |
| Mucopolysaccharide electrophoresis/TLC | |
| Oligosaccharides TLC | |
| Sialyloligosaccharides TLC | |
| Sterol biosynthesis intermediates | |
| Plasma | Lyso-Gb3 |
| Glycosylsphingosine | |
| Hexosylsphingosine (LysoGL1) | |
| Sialic acid | |
| White blood cells | Cystine |
| Peroxisomal Disorders (PD) | |
| Plasma | Phytanic acid |
| 7-Dehydrocholesterol | |
| 7-Ketocholesterol | |
| Cholestane-3?,5?,6?-triol | |
| Cholestanol | |
| Cholesterol | |
| Phytanic acid | |
| Plasmalogens | |
| Pristanic acid | |
| Sterol biosynthesis intermediates | |
| Very long chain fatty acids- VLCFA | |
| Fibroblasts | VLCFA |
| Urine | Sterol biosynthesis intermediates |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | Capillary electrophoresis |
| N-Glycosylation: Isoelectric focusing | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | L-Pipecolic acid |
| Neurotransmitters | |
| Pterines | |
| Porphyrins and porphyrin precursors | |
| Purines and pyrimidines | |
| Plasma | Purines/pyrimidines |
| Porphyrins | |
| CSF | 5-methyltetrahydrofolate |
| Neurotransmitters | |
| N-acetylaspartylglutamic acid (NAAG) | |
| Pipecolic acid | |
| Pterins | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine | Creatine |
| Creatinine | |
| Guanidinoacetate | |
| 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 | Yes | |
| 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 | Yes | |
| 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 | No | |
| O-glycosylation disorders | No | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Neurotransmitter disorders | Yes | |
| 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 | Yes | |
| Pyruvate dehydrogenase | Yes | |
| TCA-cycle enzymes | Yes | |
| Respiratory chain disorders | Yes | |
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