Diagnostic Overview – University Hospital of Marseille
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This HCP participates in the ERNDIM Quality Assessment scheme (2019)
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Available molecular techniques:
No information was provided
| 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) | |||
| University Hospital of Marseille
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Explorations biochimiques des maladies métaboliques
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| Contact Person Dr Marguerite GASTALDI
Mixture of in-house and external laboratories
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marguerite.gastaldi@ap-hm.fr
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Metabolite Tests |
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| Type of Test | Name of |
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids quantitative |
| Amino acids qualitative | |
| Carnitine Total, Free | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Glycolic Acid
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| Homocitrulline (special assay) | |
| Methylmalonic acid | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| S-Sulfocysteine | |
| Plasma
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Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic Acids profile | |
| Pipecolic acid | |
| Total homocysteine | |
| CSF | Aminoacids |
| S-adenosylhomocysteine | |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Plasma | 3-OH-butyrate |
| Lysosomal Storage Disorders (LSD) | |
| Not specified | |
| Peroxisomal Disorders (PD) | |
| Plasma | Pipecolic acid |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| No tests
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No tests |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine | Porphyrins and porphyrin precursors |
| 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
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Enzyme Tests |
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| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Aminoacidopathies | Yes | |
| Organic Acidurias | Yes | |
| Urea cycle disorders | No specified | |
| 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
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Yes | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | Yes | |
| Mucolipidoses | Yes | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | Not specified | |
| Single peroxisomal enzyme deficiencies | Not specified | |
| Disorders of Cholesterol synthesis | Not specified | |
| Bile Acid Synthesis | Not specified | |
| Phospholipid and Glycosphingolipid Synthesis | Not specified | |
| 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 | Not specified | |
| Porphyrias | Yes
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| 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 | |
Copyright ©2017-2021 all rights reserved