Genetic tests

Full name Analytes Gene panels Disease Laboratory
Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes) MEN1, CDKN1B Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4 Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia, type 1 and 4 MEN1, CDKN1B, AIP Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4 Centrum Medische Genetica - UZ Gent
Multiple endocrine neoplasia, type 1 MEN1 Multiple endocrine neoplasia type 1 Centrum Medische Genetica - UZ Antwerpen
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
Multiple endocrine neoplasia (3 genes) CDKN1B, MEN1, RET Multiple endocrine neoplasia (3 genes) - UCL Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 4 Centre de Génétique Médicale UCL
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
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centrum Medische Genetica - UZ Gent
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease type 1E Centrum Medische Genetica - UZ Antwerpen
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centre de Génétique Humaine - Erasme ULB
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) PMP22 Charcot-Marie-Tooth disease type 1A, Dejerine-Sottas syndrome, Hereditary neuropathy with liability to pressure palsies Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorders (50 hot spot mutations) CFTR Cystic fibrosis, Idiopathic bronchiectasis, Hereditary chronic pancreatitis, Congenital bilateral absence of vas deferens Centre de Génétique Médicale UCL
Bronchiectasis (4 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Bronchiectasis (4 genes) - UCL Idiopathic bronchiectasis Centre de Génétique Médicale UCL
Cystic Fibrosis / Congenital bilateral absence of vas deferens (CBAVD) / Idiopathic pancreatitis (50 recurrent mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centrum Medische Genetica - UZ Gent
Bronchiectasies with or without elevated sweat chloride panel (5 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Pulmonary/Bronchiectasies (5 genes) - IPG Idiopathic bronchiectasis, Cystic fibrosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cystic Fibrosis / related disorders (50 hot spot mutations) CFTR Cystic fibrosis, Hereditary chronic pancreatitis, Congenital bilateral absence of vas deferens, Idiopathic bronchiectasis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centrum Medische Genetica - UZ Antwerpen