Diagnostic Overview – Ospedale Pediatrico Bambino Gesù
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Genetic and Basic Metabolite & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
| No input has been received on genetic testing
|
|
| Contact person | Mail address |
Available molecular techniques:
| Laboratorio di Patologia Metabolica
|
http://www.ospedalebambinogesu.it/home |
| Contact person Christiano Rizzo | psp.patmetabolica@opbg.net |
| Metabolite Tests | |
| Type of Test | Name of Test
|
| Amino and organic acids disorders (AOA) | |
| Urine | Amino acids qualitative |
| Amino acids quantitative | |
| Glycerate, Glycolic Acid |
|
| Organic acids qualitative | |
| Orotic acid | |
| Succinylacetone | |
| Sulfite test | |
| 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 | Acylcarnitines |
| Amino Acids | |
| Methylmalonic acid | |
| CSF | Aminoacids |
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine
|
Reducing substances |
| Sugars qualitative | |
| Fructose quantitative
|
|
| Plasma | Free fatty acids |
| Lysosomal Storage Disorders (LSD) | |
| Urine
|
Glycosaminoglycans quantitative
L-Cystine |
| Plasma | Glycosylsphingosine,
Lyso-Gb3, Glucosylceramide Hexosylsphingosine (LysoGL1) |
| White blood cells | Cystine |
| Peroxisomal Disorders (PD) | |
| Plasma
|
7-Dehydrocholesterol
7-Ketocholesterol
Cholestane-3?,5?,6?-triol, Phytanic acid, Pristanic acid, Very long chain fatty acids- VLCFA |
| Erythrocytes | Plasmalogens |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Urine | Bile acid metabolites |
| Plasma, N-Glycosylation | HPLC
|
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Urine
|
L-Pipecolic acid
|
| 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) | |
| Urine
|
Creatine |
| Creatinine | |
| Guanidinoacetate | |
| Plasma | Creatine
|
| Guanidinoacetate | |
Enzyme Tests |
||
| Type of Disease | Yes or No or – is no data provided | |
| Amino and organic acids disorders (AOA) | ||
| Organic Acidurias | – | |
| Aminoacidopathies | – | |
| Urea cycle disorders | – | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases
|
– | |
| Carbohydrate diseases other than Glycogen storage diseases
|
– | |
| Fatty acid oxidation and carnitine transport disorders
|
– | |
| Disorders of Ketogenesis and Ketolysis
|
– | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
– | |
| Sphingolipidoses | – | |
| Oligosaccharidosis | – | |
| Mucolipidoses | – | |
| Lysosomal glycogen storage disease (Pompe disease) | – | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | –
|
|
| Single peroxisomal enzyme deficiencies | –
|
|
| Disorders of Cholesterol synthesis | – | |
| Bile Acid Synthesis | –
|
|
| Phospholipid and Glycosphingolipid Synthesis | –
|
|
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||
| N-glycosylation disorders | – | |
| O-glycosylation disorders | – | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||
| Neurotransmitter disorders | – | |
| Porphyrias | – | |
| Disorders of Purine and pyrimidine metabolism | – | |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | ||
| Creatine metabolism | – | |
| Pyruvate dehydrogenase | – | |
| TCA-cycle enzymes | – | |
| Respiratory chain disorders | – | |
Copyright ©2017-2021 all rights reserved