Genetic tests

Full name Analytes Gene panels Disease Laboratory
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene) FGFR3 Thanatophoric dysplasia type 2, Thanatophoric dysplasia type 1 Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centrum Medische Genetica - UZ Antwerpen
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation MLH1, BRAF Selection of therapeutic option in colorectal cancer Centre de Génétique Humaine - CHU Sart-Tilman
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
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
Download XLSX
Download PDF