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32 Result(s)

List of diseases tested (94)

2-methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaric aciduria
3-hydroxyisobutyric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 4
Alpha-1-antitrypsin deficiency
Alpha-thalassemia and related diseases
Argininemia
Argininosuccinic aciduria
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Azathioprine or 6-mercatopurine toxicity or dose selection
Barth syndrome
Beta-ketothiolase deficiency
Beta-thalassemia and related diseases
Biotinidase deficiency
Carbamoyl-phosphate synthetase 1 deficiency
Carnitine-acylcarnitine translocase deficiency
Cerebral organic aciduria
Cerebrotendinous xanthomatosis
Citrullinemia
Class I glucose-6-phosphate dehydrogenase deficiency
Classic galactosemia
Classic homocystinuria
Combined malonic and methylmalonic acidemia
Congenital adrenal hyperplasia
Congenital disorder of glycosylation
Congenital hypothyroidism
Creatine deficiency syndrome
Cystathioninuria
Cystic fibrosis
Cystinuria
Dicarboxylic aminoaciduria
Dilated cardiomyopathy with ataxia
Disorder of branched-chain amino acid metabolism
Disorder of glutamine metabolism
Disorder of methionine cycle and sulfur amino acid metabolism
Disorder of neutral amino acid transport
Disorder of ornithine or proline metabolism
Disorder of peptide metabolism
Disorder of phenylalanin or tyrosine metabolism
Encephalopathy due to sulfite oxidase deficiency
Essential fructosuria
Familial renal glucosuria
Glycine encephalopathy
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E disease
Hemoglobinopathy
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hereditary fructose intolerance
Hereditary orotic aciduria
Histidinemia
Homocystinuria without methylmalonic aciduria
Hyperlysinemia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hypertryptophanemia
Isobutyryl-CoA dehydrogenase deficiency
Isolated spina bifida
Isolated sulfite oxidase deficiency
Isovaleric acidemia
Juvenile cataract-microcornea-renal glucosuria syndrome
Lysinuric protein intolerance
Maple syrup urine disease
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia without homocystinuria
Mevalonate kinase deficiency
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 3
Mucopolysaccharidosis type 4
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Multiple carboxylase deficiency
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Neurometabolic disorder due to serine deficiency
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Oligosaccharidosis
Ornithine transcarbamylase deficiency
Peroxisomal beta-oxidation disorder
Peroxisome biogenesis disorder
Propionic acidemia
Proximal spinal muscular atrophy
Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency
Refsum disease
Rhizomelic chondrodysplasia punctata
Saccharopinuria
Sarcosinemia
Sickle cell disease and related diseases
Smith-Lemli-Opitz syndrome
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Tyrosinemia type 1

List of genes tested (including panels) (1)

By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (32)

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Congenital Hypothyroidism (TSH: ELISA, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Classic Galactosaemia (Total Galactose: colorimetric enzymatic activity analysis, bloodspot)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Congenital Adrenal Hyperplasia (17-OH-progesterone: ELISA, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Biotinidase deficiency (colorimetric test, bloodspots & spectrophotometry, serum)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Hemoglobin Disorders (Hemoglobin variants and B-Thalassemia: tandem MS, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Alpha1-Antitryspin Deficiency (Alpha-1 Antitrypsin: ELISA, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Aminoacidopathies (by LC-MS-MS: serum, urine, CSF)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Tyrosinemia I (SuccinylAcetone: tandem MS, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Homocystinuria and MMA (Homocysteine: LC-MS-MS, plasma)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Peroxisomial Disorders (VLCFA, Phytanic and Pristanic Acid by GCMSMS: serum)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Carbohydrate Deficient Sialotransferrin (sialotransferrine profile by capillary electrophoresis: serum)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Mevalonate Kinase Activity (Mevalonic Acid by GCMSMS: urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Alpha-1 Antitrypsine Phenotyping (Alpha-1 Antitrypsine by IEF: serum)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Carbohydrate metabolism disorder (reducing sugars: TLC and enzymatic, blood and urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Oligosaccharidosis (oligosaccharides: TLC, urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides GAGs: electrophoresis, urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Mucopolysaccharidosis (mucopolysaccharides GAGs: colorimetric DMB test, urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Hereditary orotic aciduria (orotic acid/orotidine: HPLC, urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Smith-Lemli-Opitz Syndrom (7-Dehydrocholesterol: GC-MS-MS)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Thiopurine-Methyl-Transferase Activity (6-Thioguanine & 6MMP: HPLC, EDTA blood)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of spina bifida (AFP and AChE : amniotic Fluid)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Hemoglobin Disorders (Hemoglobin: IEF and HPLC, whole blood)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Organic acidurias (acylcarnitines: by tandem MS in bloodspots, serum or urine & organic acids by GC/MS in urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Creatine Disorders (Creatine and Guanidionoacetate by GCMSMS: urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of hemolytic anemia due to red cell pyruvate kinase deficiency
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Aminoacidopathy, Organic Aciduria and Beta-Oxydation defects (Amino Acids and Acylcarnitines by MSMS)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of non-spherocytic hemolytic anemia due to hexokinase deficiency
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of hemolytic anemia due to glucosephosphate isomerase deficiency
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of Cerebrotendinous xanthomatosis (Cholestanol: GC-MS-MS)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of cystic fibrosis (Immunoreactive trypsinogen (IRT) assay)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of proximal spinal muscular atrophy (SMN1 gene)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of class I glucose-6-phosphate dehydrogenase deficiency
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay