Centro Hospitalar do Porto, EPE (CHP)

Genetic and Basic Metabolic & Enzyme testing

This HCP participates in the ERNDIM Quality Assessment scheme (2019)

Centro de Genética Médica Jacinto Magalhães – CHUP

Praça Pedro Nunes 88, Porto – Portugal

Contact Person Dra Dulce Quelhas

dulce.quelhas@chporto.min-saude.pt

Available molecular techniques:

Sanger sequencing,
Whole exome sequencing (WES),
Multiplex ligation-dependent probe (MLPA),
RNA sequencing,
NGS panels
rapid WES/WGS based gene diagnostics are available as routine diagnostic analysis. Related turnaround time is 6 months
The genetic laboratory/geneticist collaborates with other professionals on complementing the genetic findings with the clinical and biochemical phenotype (multidisciplinary approach)
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	Sanger sequencing available
Urea cycle disorders	Sanger sequencing available
Organic acidurias	Sanger sequencing available
Fatty Acid Oxidation (FAO Disorders)
FAO disorders	Sanger sequencing available
Glycogen storage diseases (GSD)	Sanger sequencing available
Carbohydrate disorders other than GSD	Sanger sequencing available
Lysosomal Storage Disorders (LSD)
Sphingolipidoses	Sanger sequencing available
Gangliosidoses	Sanger sequencing available
Sphingolipid synthesis	Sanger sequencing available
Mucopolysaccharidoses	Sanger sequencing available
Oligosaccharidoses	Sanger sequencing available
Peroxisomal Disorders (PD)
Single peroxisomal enzyme deficiencies	Sanger sequencing available
Peroxisome biogenesis	Sanger sequencing available
Disorders of Cholesterol Synthesis	Sanger sequencing available
Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG)
O-glycosylation deficiencies	Contained in virtual panel
N-glycosylation deficiencies	Sanger sequencing available

NGS panels for neuromuscular diseases, neurodegenerative diseases and cognitive impairment
* The turnaround time for all the above-mentioned tests is 2-4 weeks except O-glycosylation deficiencies for which it is 3-6 months
Databases used to link variants with clinical phenotype: Clinvar, Decipher, HGMD (Human Gene Mutation Database), Locus specific Databases (LSDBs), In house, GnomAD.

Centro de Genética Médica

External metabolic laboratory

Praça de Pedro Nunes 88, 4050-466 Porto – Portugal

Contact person Dra Dulce Quelhas

dulce.quelhas@chporto.min-saude.pt

Metabolite Tests
Type of Test	Name of
Amino and organic acids disorders (AOA)
Urine	Amino acids qualitative
	Amino acids quantitative
	Carnitine Total, Free
	Organic acids qualitative
	Organic acids quantitative
Plasma	Amino acids quantitative
	Acylcarnitines
	Carnitine, free and total
	Total homocysteine
Dry blood spots	Acylcarnitines,
CSF	Aminoacids
Fatty Acid Oxidation (C-FAO Disorders)
Urine	Reducing substances
Lysosomal Storage Disorders (LSD)
Urine	Glycosaminoglycans qualitative (screening tests)
	Glycosaminoglycans quantitative,
	Mucopolysaccharide electrophoresis/TLC,
	Sialic acid,
	L-Cystine,
	Oligosaccharides TLC,
	Oligosaccharides/glycosaminoglycans by mass spectrometry
Plasma/EDTA	Lyso-Gb3,
Plasma/EDTA	Hexosylsphingosine (LysoGL1)
Peroxisomal Disorders (PD)
Plasma	Phytanic acid,
	Pristanic acid,
	Very long chain fatty acids- VLCFA
Erythrocytes:	Plasmalogens
Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG)
Plasma	N-Glycosylation: Capillary electrophoresis,
Plasma	N-Glycosylation: Isoelectric focusing
Disorders of Neuromodulators and other small Molecules (NOMS)
Urine	U-Copper (24h)
Plasma	p-Copper
Plasma	p-Ceruloplasmin
Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD)
Urine	Creatine,
	creatinine
	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	No
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	Yes
Pyruvate dehydrogenase	No
TCA-cycle enzymes	No
Respiratory chain disorders	No