Hospital Universitario Vall d’Hebron

Metabolic & Enzyme testing

Genetic testing overview

Medical genetics

In-house metabolic lab (IH)

Laboratori Genética

https://www.vallhebron.com/ca/especialitats/genetica-clinica-i-molecular

Contact person Elena Garcia

elena.garcia@vhir.org

Available molecular techniques:

Sanger sequencing,
Whole exome sequencing (WES),
Whole genome sequencing (WGS), Multiplex ligation-dependent probe (MLPA), RNA sequencing
Rapid WES/WGS based gene diagnostics are available as research project; the turnaround time is 2-4 weeks.
The genetic laboratory/ geneticists provides feedback on the genetic WES /WGS result in isolation (based on the clinical information sent with the sample)
The overall genetic panel is available and consist of 226 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	2-4 weeks
Organic acidurias	2-4 weeks
Urea cycle disorders	2-4 weeks
Fatty Acid Oxidation (FAO Disorders)
FAO Disorders	2-4 weeks
Glycogen storage diseases (GSD)	2-4 weeks
Carbohydrate disorders other than GSD	2-4 weeks
Ketogenesis diorders	2-4 weeks
Ketolysis disorders	2-4 weeks
Lysosomal Storage Disorders (LSD)
Sphingolipidoses	2-4 weeks
Gangliosidoses	2-4 weeks
Oligosaccharidoses	2-4 weeks
Sphingolipid synthesis	2-4 weeks
Mucopolysaccharidoses	2-4 weeks
Peroxisomal Disorders (PD)
Bile Acid Synthesis	2-4 weeks
Peroxisome biogenesis	8-12 weeks
Disorders of Cholesterol Synthesis	8-12 weeks
Phospholipid and Glycosphingolipid Synthesis	8-12 weeks
Single peroxisomal enzyme deficiencies	8-12 weeks
Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG)
O-glycosylation deficiencies	8-12 weeks
N-glycosylation deficiencies	8-12 weeks
Porphyrias	8-12 weeks
Purine and Pyrimidine metabolism	2-4 weeks
Nuclear mitochondrial genes	2-4 weeks
mtDNA genes	2-4 weeks
Disorders of Neuromodulators and other small Molecules (NOMS)
–	–
Disorders of Pyruvate Metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD)
–	–

Basic metabolic and enzyme testing

Medical genetics

In-house metabolic lab (IH)

Laboratori de metabolopaties. Laboratoris clinics Hospital Universitari Vall d’Hebron

https://www.vallhebron.com/ca/especialitats/laboratoris-clinics

Contact person Jose Antonio Arranz / Clara Carnicer

jaarranz@vhebron.net / ccarnicer@vhebron.net

Metabolite Tests
Type of Test	Name of
Amino and organic acids disorders (AOA)
Urine	Amino acids quantitative
	Brandt test
	Glycerate
	Glycolic Acid
	3-Hydroxyglutaric acid
	Homocitrulline (special assay)
	Mevalonic acid
	Orotidine
	Organic acids quantitative
	Orotic acid
	Oxalate
	Sulfite test
	Succinylacetone
	S-Sulfocysteine
Plasma	Amino acids quantitative
	Carnitine, free and total
	Methylmalonic acid (MMA
	Total homocysteine
CSF	Aminoacids
Fatty Acid Oxidation (C-FAO Disorders)
Urine	Reducing substances
Urine	Sugars qualitative
Plasma	Free fatty acids
	Galactose
	3-OH-butyrate and acetoacetate
CSF	Sugars
Lysosomal Storage Disorders (LSD)
Urine	Glycosaminoglycans quantitative
Urine	L-Cystine
Plasma/EDTA	Lyso-Gb3
Plasma/EDTA	Hexosylsphingosine (Lyso GL1)
Peroxisomal Disorders (PD)
	No information provided
Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG)
	No information provided
Disorders of Neuromodulators and other small Molecules (NOMS)
Urine	Porphyrins and porphyrins precursors
	Purines and pyrimidines
	Neurotransmitters
	U-Copper (24h)
Plasma	p-Ceruloplasmin
Plasma	p-Copper
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
Plasma	Guanidinoacetate
CSF	Pyruvate/lactate

Enzyme Tests
Type of Disease	Yes or No
Amino and organic acids disorders (AOA)
Organic Acidurias	Yes
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	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	Yes