Diagnostic Overview – Laboratory Medicine UZ Leuven

Laboratory Medicine UZ LeuvenMetabolite & Enzyme testing

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

1. Genetic testing overview

Center for Human Genetics https://www.uzleuven.be/en/centre-human-genetics
Contact person Eric Legius

 

cme_dna@uzleuven.be

 

Available molecular techniques:

  • Sanger sequencing
  • Whole exome sequencing (WES)
  • Whole genome sequencing (WGS)
  • Multiplex ligation-dependent probe (MLPA)
  • Rapid WES/WGS based gene diagnostics are available as research project; the turnaround time is 6-8 weeks.
  • 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)
Fatty Acid Oxidation (FAO Disorders)
Lysosomal Storage Disorders (LSD)
Peroxisomal Disorders (PD)
Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG)
O-glycosylation deficiencies Contained in a virtual panel 3-6 months
N-glycosylation deficiencies Contained in a virtual panel 3-6 months
Nuclear mitochondrial genes Contained in a virtual panel
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)
Databases used to link variants with clinical phenotype: Clinvar, Decipher, HGMD (Human Gene Mutation Database), In house

 

 

2. Basic metabolite and enzyme testing

Laboratory Medicine UZ Leuven

In house metabolic laboratory for basic metabolic testing

 

 

Herestraat 49, Leuven
Contact person Pieter Vermeersch

 

pieter.vermeersch@uzleuven.be

Metabolic Tests

Type of Test Name of
Amino and organic acids disorders (AOA)

Urine Amino acids quantitative
Carnitine Total, Free
Glycerate
Glycolic Acid
Homocitrulline (special assay)
Organic acids qualitative
Organic acids quantitative
Orotic acid
Oxalate
Succinylacetone
Sulfite test
S-Sulfocysteine
Plasma

 

 

Amino acids quantitative

Acylcarnitines
Carnitine, free and total
Organic acids profile
Oxalic acid
Total homocysteine
CSF  

Amino acids

 

Fatty Acid Oxidation (C-FAO Disorders)
Urine Reducing substances
Galactitol (special assay)
Polyols profiling
Sugars qualitative
Fructose qualitative
Plasma 3-OH-butyrate and acetoacetate

 

Free fatty acids
Galactose

 

Lysosomal Storage Disorders (LSD)
Urine

 

Glycosaminoglycans quantitative
L-Cystine
Oligosaccharides TLC
Sialyloligosaccharides TLC
Peroxisomal Disorders (PD)
Plasma

 

 

7-Dehydrocholesterol

Cholesterol
Cholestanol
Very long chain fatty acids- VLCFA
Disorders of Neuromodulators and other small Molecules (NOMS)
Urine L-Pipecolic acid
Porphyrins and porphyrin precursors
U-Copper (24h)
Plasma Porphyrins

p-Copper

p-Ceruloplasmin
Faeces Porphyrins
Erythrocytes Protoporphyrin
Congenital Disorders of glycosylation and Disorders of intracellular trafficking (CDG)
N-Glycosylation: Capillary electrophoresis
N-Glycosylation: Isoelectric focusing
O-Glycosylation test: Isoelectric focusing
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)
Organic Acidurias no
Aminoacidopathies no
Urea cycle disorders
Fatty Acid Oxidation (C-FAO Disorders)
Glycogen storage
diseases 
No
Carbohydrate diseases other than
Glycogen storage diseases 
Yes
Fatty acid oxidation and carnitine
transport disorders 
No
Disorders of Ketogenesis and Ketolysis

 

No
Lysosomal Storage Disorders (LSD)
Mucopolysaccharidoses

 

No
Sphingolipidoses No
Oligosaccharidosis No
Mucolipidoses No
Lysosomal glycogen storage disease (Pompe disease) No
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