Genetic tests

Full name Analytes Gene panels Disease Laboratory
RASopathy (gene panel) RASopathy - KUL Noonan syndrome Centrum Menselijke Erfelijkheid - KUL
Noonan syndrome (Screening PTPN11) PTPN11 Noonan syndrome, Noonan syndrome with multiple lentigines Centrum Menselijke Erfelijkheid - KUL
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
Segawa syndrome (GCH1 gene) GCH1 Autosomal dominant dopa-responsive dystonia, GTP cyclohydrolase I deficiency Centrum Medische Genetica - UZ Brussel VUB
Pituitary adenoma (4 genes) MEN1, AIP, CDKN1B, PRKAR1A Pituitary adenoma (4 genes) - ULG Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Carney complex Centre de Génétique Humaine - CHU Sart-Tilman
Carney syndrome PRKAR1A Carney complex Centre de Génétique Médicale UCL
Thyroid hormone receptor resistance (THRB gene) THRB Pituitary resistance to thyroid hormone, Generalized resistance to thyroid hormone Centrum Medische Genetica - UZ Brussel VUB