Genetic tests

Full name Analytes Gene panels Disease Laboratory
Fukuyama congenital muscular dystrophy FKTN Congenital muscular dystrophy, Fukuyama type Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - UCL Hereditary chronic pancreatitis Centre de Génétique Médicale UCL
Pancreatitis, hereditary (2 genes) PRSS1, SPINK1 Hereditary chronic pancreatitis Centrum Medische Genetica - UZ Gent
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - ULB Hereditary chronic pancreatitis Centre de Génétique Humaine - Erasme ULB
Pancreatitis, idiopathic or hereditary (7 genes) CFTR, SPINK1, PRSS1, CTRC, CASR, CLDN2, CPA1 Pancreatitis (7 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder ( Martinez-Frias) syndrome RFX6 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L) BCL11A, HBG2, HBS1L Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hemoglobinopathy Toms River Centre de Génétique Humaine - Erasme ULB