Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - UCL Hereditary chronic pancreatitis 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
Pancreatitis, hereditary (2 genes) PRSS1, SPINK1 Hereditary chronic pancreatitis Centrum Medische Genetica - UZ Gent
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 (50 hot spot mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Idiopathic pulmonary fibrosis, Hereditary chronic pancreatitis Centrum Medische Genetica - UZ Antwerpen
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
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (88 hot spot mutations) CFTR Cystic fibrosis, Hereditary chronic pancreatitis, Congenital bilateral absence of vas deferens, Idiopathic bronchiectasis Centre de Génétique Humaine - Erasme ULB
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - ULB Hereditary chronic pancreatitis Centre de Génétique Humaine - Erasme ULB
Cystic Fibrosis / Congenital absence of the vas deferens / related disorders (50 hot spot mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centrum Menselijke Erfelijkheid - KUL
Cystic Fibrosis / related disorders (50 hot spot mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Idiopathic bronchiectasis, Hereditary chronic pancreatitis Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorder (Full sequencing) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centre de Génétique Humaine - CHU Sart-Tilman
Pancreatitis hereditary (PRSS1 gene) PRSS1 Hereditary chronic pancreatitis Centre de Génétique Humaine - CHU Sart-Tilman
Cystic Fibrosis / related disorders CFTR Cystic fibrosis, Idiopathic bronchiectasis, Hereditary chronic pancreatitis, Congenital bilateral absence of vas deferens Centre de Génétique Médicale UCL
Capillary malformation - arteriovenous malformation (2 genes) RASA1, EPHB4 Capillary/arteriovenous malformation (2 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Capillary malformation-arteriovenous malformation, Vein of Galen aneurysmal malformation, Parkes Weber syndrome Centre de Génétique Médicale UCL
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
Arteriovenous malformation (gene panel) Arteriovenous malformation (7 genes), Vascular malformations (germline) (38 genes) - UCL Hereditary hemorrhagic telangiectasia, Heritable pulmonary arterial hypertension, Familial cerebral saccular aneurysm, Vein of Galen aneurysmal malformation, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Microcephaly-capillary malformation syndrome Centre de Génétique Médicale UCL