Diagnostic Overview – Hospital Sant Joan de Déu
Hospital Sant Joan de Déu
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Francesc Palau Martinez
|
Servei de Medicina Genètica i Molecular
|
| A mixture of in-house and external genetic laboratories |
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Multiplex ligation-dependent probe (MLPA)
- Genetic panel
- 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 | Contained in virtual panel
|
2-4 weeks | ||||
| Organic acidurias | Contained in virtual panel
|
2-4 weeks | ||||
| Urea cycle disorders | Contained in virtual panel
|
2-4 weeks | ||||
| Fatty Acid Oxidation (FAO Disorders) | ||||||
| FAO disorders | Contained in virtual panel
|
2-4 weeks | ||||
| Glycogen storage diseases (GSD) | Contained in virtual panel
|
2-4 weeks | ||||
| Carbohydrate disorders other than GSD | Contained in virtual panel
|
2-4 weeks | ||||
| Ketogenesis diorders | Contained in virtual panel
|
2-4 weeks | ||||
| Ketolysis disorders | Contained in virtual panel
|
2-4 weeks | ||||
| Lysosomal Storage Disorders (LSD) | ||||||
| Sphingolipidoses | Contained in virtual panel
|
2-4 weeks | ||||
| Gangliosidoses | Contained in virtual panel
|
2-4 weeks | ||||
| Sphingolipid synthesis | Contained in virtual panel
|
2-4 weeks | ||||
| Mucopolysaccharidoses | Contained in virtual panel
|
2-4 weeks | ||||
| Oligosaccharidoses | Contained in virtual panel
|
2-4 weeks | ||||
| Peroxisomal Disorders (PD) | ||||||
| Single peroxisomal enzyme deficiencies | Contained in virtual panel
|
2-4 weeks | ||||
| Peroxisome biogenesis | Contained in virtual panel
|
2-4 weeks | ||||
| Disorders of Cholesterol Synthesis | Contained in virtual panel
|
2-4 weeks | ||||
| Phospholipid and Glycosphingolipid Synthesis | Contained in virtual panel
|
2-4 weeks | ||||
| Phospholipid and Glycosphingolipid Synthesis | Contained in virtual panel
|
2-4 weeks | ||||
| CDG | ||||||
| N-glycosylation deficiencies | Contained in virtual panel
|
4-8 weeks
|
||||
| O-glycosylation deficiencies | Contained in virtual panel
|
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 virtual panel
|
4-8 weeks
|
||||
| mtDNA genes | Nuclear mitochondrial genes | 4-8 weeks
|
||||
| NOMS | ||||||
| Neurotransmitter disorders | Contained in virtual panel
|
2-4 weeks | ||||
| Porphyrias | Contained in virtual panel
|
2-4 weeks | ||||
| Purine and Pyrimidine metabolism | Contained in virtual panel
|
2-4 weeks | ||||
| Clinvar, Decipher, HGMD (Human Gene Mutation Database)
|
||||||
2. Basic metabolite and enzyme testing
| Hôpital Antoine Béclère, Service de Pédiatrie – AP-HP
|
Biochemistry Laboratory |
| Contact Person Rafael Artuch
In-house metabolic lab (IH)
|
laboratori@hsjdbcn.org
|
| Metabolite Tests | |
| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Amino acids qualitative | |
| Carnitine Total, Free | |
| Glycerate | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic Acids profile | |
| Total homocysteine | |
| Succinylacetone | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Dry Blood Spots | Aminoacids |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Plasma | 3-OH-butyrate and acetoacetate |
| Free fatty acids | |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans quantitative, |
| L-Cystine | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| CSF | Sialic acid |
| Peroxisomal Disorders (PD) | |
| Plasma | 7-Dehydrocholesterol |
| 7-Ketocholesterol | |
| Cholestane-3?,5?,6?-triol | |
| Cholestanol | |
| Cholesterol | |
| Phytanic acid | |
| Pristanic 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 | L-Pipecolic acid |
| Neurotransmitters | |
| Purines and pyrimidines | |
| Purines and pyrimidines | |
| U-Copper (24h) | |
| Plasma | p-Copper |
| p-Ceruloplasmin | |
| CSF | 3-methoxytyrosine |
| 5-methyltetrahydrofolate | |
| Neurotransmitters | |
| 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 | |
| Plasma | Creatine |
| 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 |
No | |
| Fatty acid oxidation and carnitine transport disorders |
Yes | |
| Disorders of Ketogenesis and Ketolysis | No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | No | |
| 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 | No | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | Yes | |
| O-glycosylation disorders | Yes | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Neurotransmitter disorders | Yes | |
| 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 | Yes | |
| Pyruvate dehydrogenase | Yes | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | Yes | |
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