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Genetic tests
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Analytes
Gene panels
Disease
Laboratory
Rendu-Osler-Weber disease (4 genes)
Rendu/Osler/weber (4 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Centre de Génétique Médicale UCL
Resistance to clopidrogel - PON1 genotyping (Q192R) - Pharmacogenetics
Centre de Génétique Médicale UCL
Paraganglioma and pheochromocytoma (gene panel)
Paraganglioma and pheochromocytoma (29 genes) - UCL
Centre de Génétique Médicale UCL
Onco-endocrine pathologies (gene panel)
Onco-endocine pathologies (50 genes) - UCL
Centre de Génétique Médicale UCL
Whole exome sequencing
Centre de Génétique Médicale UCL
Rasopathies (virtual gene panel)
Centre de Génétique Médicale UCL
Epileptic encephalopathies (virtual gene panel)
Centre de Génétique Médicale UCL
41 pharmacogenes analysis
pharmacogenes analysis
Centre de Génétique Médicale UCL
MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics
MTHFR
Centre de Génétique Médicale UCL
TPMT*2,*3A, *3B, *3C, *3D, *4 - drug metabolism - Pharmacogenetics
TPMT
Centre de Génétique Médicale UCL
Hereditary cancer panel (gene panel)
Hereditary Cancer Solution (35 genes) - UCL
Centre de Génétique Médicale UCL
Telomeropathies (virtual gene panel)
Centre de Génétique Médicale UCL
Intellectual disability (virtual gene panel)
Intellectual disability (gene panel)
Centre de Génétique Médicale UCL
5-fluorouracil (5-FU) toxicity - DPYD sequencing (all exons) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
Centre de Génétique Médicale UCL
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD*2A, DPYD*13, D949V, HapB3) - Pharmacogenetics
DPYD
5-fluorouracil toxicity
Centre de Génétique Médicale UCL
Alagille syndrome (2 genes)
JAG1
,
NOTCH2
Alagille syndrome (2 genes) - UCL
Alagille syndrome due to a JAG1 point mutation
,
Alagille syndrome due to a NOTCH2 point mutation
,
Alagille syndrome due to 20p12 microdeletion
Centre de Génétique Médicale UCL
alpha-globin hemoglobinopathies
HBA1
Alpha-thalassemia
Centre de Génétique Médicale UCL
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique Médicale UCL
Primary lymphedema / fetal hydrops (gene panel)
Lymphedema / fetal hydrops (27 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
,
Cardiofaciocutaneous syndrome
,
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
,
Noonan syndrome
,
Oculodentodigital dysplasia
,
Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
,
Lymphedema-distichiasis syndrome
,
Lymphedema-posterior choanal atresia syndrome
,
Hennekam syndrome
,
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
CYP2C19*2,*3,*17 genotyping - drug metabolism - Pharmacogenetics
CYP2C19
Antidepressant or antipsychotic toxicity or dose selection
,
Resistance to clopidogrel
,
Voriconazole toxicity
Centre de Génétique Médicale UCL
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