Diagnostic Overview – Azienda Sanitaria Universitaria Friuli Centrale
Azienda Sanitaria Universitaria Friuli Centrale
Genetic and Basic Metabolic & Enzyme testing
This HCP participates in the ERNDIM Quality Assessment scheme (2019)
1. Genetic testing overview
| In-house genetic laboratory
|
Centro di diagnostica genetica e biochimica delle malattie metaboliche
|
| Contact person: dr.ssa Andrea Dardis | laboratorio.malattierare@asufc.sanita.fvg.it |
Available molecular techniques:
- Sanger sequencing
- Whole exome sequencing (WES)
- Multiplex ligation-dependent probe (MLPA)
- RNA sequencing
- Yes, rapid WES/WGS based gene diagnostics are available as routine diagnostic analysis (8-10 weeks)
- Currently the overall metabolic gene panel contains 215 genes
- 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)
- The following databases are used to link variants with clinical phenotype: HGMD (Human Gene Mutation Database), Clinvar
| Tests that are being offered in this lab | ||||||
| Amino and organic acids disorders (AOA) | ||||||
| Aminoacidopaties | Contained in virtual panel | 4-8 weeks | ||||
| Urea Cycle disorders | Contained in virtual panel | 4-8 weeks | ||||
| Organic acidurias | Contained in virtual panel | 4-8 weeks | ||||
| Fatty Acid Oxidation (FAO Disorders) | ||||||
| Glycogen storage diseases (GSD) | Contained in virtual panel | |||||
| Carbohydrate disorders other than GSD | Contained in virtual panel | 4-8 weeks | ||||
| Ketogenesis disroders | Contained in virtual panel | 4-8 weeks | ||||
| Ketolysis disorders
|
Contained in virtual panel | 4-8 weeks | ||||
| Lysosomal Storage Disorders (LSD) | ||||||
| Sphingolipidoses
|
Contained in real panel | 2-4 weeks | ||||
| Gangliosidoses | Contained in real panel | 2-4 weeks | ||||
| Sphingolipid synthesis
|
Contained in real panel | 2-4 weeks | ||||
| Mucopolysaccharidoses
|
Contained in real panel | 2-4 weeks | ||||
| Peroxisomal Disorders (PD) | ||||||
| Single peroxisomal enzyme deficiencies | Contained in virtual panel | 4-8 weeks | ||||
| Peroxisome biogenesis | Contained in virtual panel | 4-8 weeks | ||||
| Disorders of Cholesterol Synthesis
|
Contained in real panel | 4-8 weeks | ||||
| Bile Acid Synthesis
|
Contained in virtual panel | 4-8 weeks | ||||
| Disorders of Cholesterol Synthesis | Contained in virtual panel | 4-8 weeks | ||||
| Phospholipid and Glycosphingolipid Synthesis | 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
|
Contained in virtual panel | 4-8 weeks | ||||
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | ||||||
| N-glycosylation deficiencies
|
Contained in virtual panel | 4-8 weeks | ||||
| O-glycosylation deficiencies
|
Contained in virtual panel | 4-8 weeks | ||||
| Disorders of Neuromodulators and other small Molecules (NOMS) | ||||||
| Neurotransmitter disorders
|
Contained in virtual panel | 4-8 weeks | ||||
| Porphyrias
|
Contained in virtual panel | 4-8 weeks | ||||
| Purine and Pyrimidine metabolism
|
Contained in virtual panel | 4-8 weeks | ||||
| HGMD (Human Gene Mutation Database)
Locus specific Databases (LSDBs) In house |
||||||
2. Basic metabolite and enzyme testing
| A mixture of in-house and external laboratories
|
|
| Contact Person: dr.ssa Andrea Dardis
Contact Person External Lab: dr.ssa Marta Camilot
|
laboratorio.malattierare@asufc.sanita.fvg.it
marta.camilot@aovr.veneto.it
|
| Metabolite Tests | |
| 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 | |
| Homocitrulline (special assay) | |
| Methylmalonic acid | |
| Organic acids qualitative | |
| Organic acids quantitative | |
| Orotic acid | |
| Oxalate | |
| Succinylacetone | |
| Sulfite test | |
| S-Sulfocysteine | |
| Plasma
|
Amino acids quantitative |
| Acylcarnitines | |
| Carnitine, free and total | |
| Methylmalonic acid (MMA) | |
| Organic Acids profile | |
| Oxalic acid | |
| Total homocysteine | |
| Succinylacetone | |
| S-adenosylhomocysteine | |
| S-adenosylmethionine | |
| Dry Blood Spots | Amino acids |
| Acylcarnitines | |
| Methylmalonic acid | |
| Methylmalonic acid | |
| CSF | Aminoacids |
| S-adenosylhomocysteine | |
| S-adenosylmethionine
|
|
| Fatty Acid Oxidation (C-FAO Disorders) | |
| Urine | Galactitol (special assay) |
| Reducing substances | |
| Polyols profiling | |
| Sugars qualitative | |
| Fructose quantitative | |
| Plasma | 3-OH-butyrate and acetoacetate |
| Free fatty acids | |
| Galactose | |
| Dry blood spots | Gal and Gal-1P semiquantitative |
| CSF | Polyols |
| Sugars | |
| Lysosomal Storage Disorders (LSD) | |
| Urine | Glycosaminoglycans qualitative (screening tests) |
| Glycosaminoglycans quantitative | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Sialyloligosaccharides TLC | |
| Sulfatides | |
| Oligosaccharides/glycosaminoglycans by mass spectrometry | |
| Plasma | Glycosylsphingosine |
| Lyso-Gb3 | |
| Hexosylsphingosine (LysoGL1) | |
| Peroxisomal Disorders (PD) | |
| Plasma | 7-Dehydrocholesterol |
| 7-Ketocholesterol | |
| Cholestane-3,5,6-triol | |
| Cholestanol | |
| Cholesterol | |
| Phytanic acid | |
| Very long chain fatty acids- VLCFA | |
| Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG) | |
| No information available | |
| Disorders of Neuromodulators and other small Molecules (NOMS) | |
| L-Pipecolic acid | |
| Neurotransmitters | |
| Pterines | |
| Purines and pyrimidines
|
|
| Plasma | Porphyrins |
| Purines/pyrimidines | |
| p-Copper | |
| 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 | No | |
| Organic Acidurias | 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 | No | |
| Lysosomal Storage Disorders (LSD) | ||
| Mucopolysaccharidoses
|
Yes | |
| Sphingolipidoses | Yes | |
| Oligosaccharidosis | Yes | |
| Mucolipidoses | Yes | |
| Lysosomal glycogen storage disease (Pompe disease) | Yes | |
| Peroxisomal Disorders (PD) | ||
| Peroxisome biogenesis | No | |
| Single peroxisomal enzyme deficiencies | No | |
| Disorders of Cholesterol synthesis | No | |
| Bile Acid Synthesis | No | |
| Phospholipid and Glycosphingolipid Synthesis | No | |
| 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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