Diagnostic Overview – ASST Monza San Gerardo Hospital
ASST Monza San Gerardo Hospital
Metabolite & Enzyme testing
This HCP did not participate in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| Molecular and Cellular Biology Diagnosis Laboratory Firenze
A mixture of in-house and external genetic laboratories
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| Contact person Amelia Morrone
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amelia.morrone@meyer.it
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Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Multiplex ligation-dependent probe (MLPA)
- RNA sequencing
- Rapid WES/WGS based gene diagnostics are available as research project; the turnaround time is 8-10 weeks.
- The genetic laboratory/geneticist collaborates with other professionals on complementing the genetic findings with the clinical and biochemical phenotype (multidisciplinary approach)
- The overall genetic panel is available and consist of 30 genes. The LSD panel, mito nuclear and mitochondrial panel; DNA analyses abroad.
- The overall metabolic panel is a real panel (i.e a fixed number of genes that are physically isolated and sequenced)
| Tests that are being offered in this lab | |||
| Amino and organic acids disorders (AOA) | |||
| Aminoacidopaties | |||
| Fatty Acid Oxidation (FAO Disorders) | |||
| FAO Disorders | |||
| Carbohydrate disorders other than GSDGSD (Sanger sequencing) | |||
| Lysosomal Storage Disorders (LSD) | |||
| Sphingolipidoses | |||
| Gangliosidoses | |||
| Mucopolysaccharidoses | |||
| Oligosaccharidoses | |||
| Peroxisomal Disorders (PD) | |||
| Bile Acid Synthesis | |||
| Peroxisome biogenesis | |||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |||
| O-glycosylation deficiencies | |||
| N-glycosylation deficiencies | |||
| Disorders of Neuromodulators and other small Molecules (NOMS) | |||
| Porphyrias | |||
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |||
| mtDNA genes | |||
| Nuclear mitochondrial genes | |||
| * The turnaround time for all the above-mentioned tests is 3-6 months
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| Databases used: HGMD (Human Gene Mutation Database), Polyphen, Mutation Taster, GnomVar
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2. Basic metabolite and enzyme testing
| Consorzio Genetica Molecolare Umana
In house metabolic laboratory for basic metabolic testing Both in- house and external laboratories for enzyme analysis
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| Contact person Prof. Alberto Piperno | genemonza@unimib.it
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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 | |
| Formiminoglutamic acid (FIGLU) | |
| Glycerate | |
| Glycolic Acid | |
| Homocitrulline (special assay) | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| S-Sulfocysteine | |
| Plasma
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Amino acids quantitative |
| Acylcarnitines | |
| Methylmalonic acid (MMA) | |
| Organic acids profile | |
| Oxalic acid | |
| Total homocysteine | |
| S-adenosylhomo-cysteine | |
| S-adenosyl-methionine | |
| Succinylacetone | |
| Dry blood spots | Amino acids
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| Acylcarnitines
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| Total homocysteine
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| Methylmalonic acid
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| CSF | Amino acids
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| S-adenosylhomo-cysteine
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| S-adenosylmethionine
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| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Reducing substances |
| Fructose quantitative | |
| Sugars qualitative | |
| Plasma | 3-OH-butyrate and acetoacetate
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| Free fatty acids | |
| Galactose
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| Dry blood spots | Gal and Gal-1P semiquantitative
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| CSF | Sugars |
| Lysosomal Storage Disorders (LSD) | |
| Urine
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Glycosaminoglycans quantitative (screening test) |
| Glycosaminoglycans quantitative
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| L-Cystine | |
| Mucopolysaccharide electrophoresis/ TLC | |
| Oligosaccharides TLC | |
| Neuraminic acid | |
| Sterol biosynthesis intermediates | |
| Sialic Acid | |
| Sialyloligosaccharides TLC | |
| Sulfatides | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Plasma/EDTA | Lyso-Gb3
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| CCL18 | |
| Hexosylsphingosine (LysoGL1) | |
| Glucosylceramide | |
| Glycosylsphingosine | |
| White blood cells | Cystine |
| CSF | Sialic Acid |
| Peroxisomal Disorders (PD) | |
| Plasma
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7-Dehydrocholesterol
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| Cholesterol | |
| Phytanic acid | |
| Pristanic acid | |
| Plasmalogens | |
| Sterol biosynthesis intermediates | |
| Very long chain fatty acids- VLCFA | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| Plasma | N-Glycosylation: Isoelectric focusing |
| O-Glycosylation test: Isoelectric focusing | |
| Urine
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L-Pipecolic acid |
| Neurotransmitters | |
| Porphyrins and porphyrin precursors | |
| Pterines | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| Plasma | Porphyrins |
| p-Ceruloplasmin | |
| P-copper | |
| CSF | Alpha-aminoadipic semialdehyde |
| Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD) | |
| Urine | Creatine |
| Creatinine | |
| Guanidinoacetate | |
| Plasma | Creatinine |
| Guanidinoacetate | |
| CSF | Pyruvate/lactate |
Enzyme Tests |
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| Type of Disease | Yes or No | |
| Amino and organic acids disorders (AOA) | ||
| Organic Acidurias | No | |
| Aminoacidopathies | No | |
| Urea cycle disorders | No | |
| Fatty Acid Oxidation (C-FAO Disorders) | ||
| Glycogen storage diseases |
No | |
| Carbohydrate diseases other than Glycogen storage diseases |
No | |
| Fatty acid oxidation and carnitine transport disorders |
No | |
| Disorders of Ketogenesis and Ketolysis
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No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
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No | |
| Sphingolipidoses | No | |
| Oligosaccharidosis | No | |
| Mucolipidoses | No | |
| Lysosomal glycogen storage disease (Pompe disease) | No | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | No
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| Single peroxisomal enzyme deficiencies | No
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| Disorders of Cholesterol synthesis | No | |
| Bile Acid Synthesis | No
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| Phospholipid and Glycosphingolipid Synthesis | No
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| 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 | 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 | No | |
| TCA-cycle enzymes | No | |
| Respiratory chain disorders | No | |
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