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Ellis-van Creveld syndrome (2 genes)
EVC
,
EVC2
Ellis-van Creveld (2 genes) - IPG
Ellis Van Creveld syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Beta-globin hemoglobinopathies
HBB
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Dominant beta-thalassemia
,
Hemoglobin C disease
,
Hemoglobin D disease
,
Hemoglobin E disease
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Sickle cell anemia
Centre de Génétique Médicale UCL
Beta-globin hemoglobinopathies
HBB
Sickle cell anemia
,
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Hemoglobin Lepore-beta-thalassemia syndrome
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Hemoglobin D disease
Centre de Génétique Humaine - Erasme ULB
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
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics
CYP2D6
Codeine toxicity
,
Resistance to tamoxifene
,
Antidepressant or antipsychotic toxicity or dose selection
Centre de Génétique Médicale UCL
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
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