Genetic tests

Full name Analytes Gene panels Disease Laboratory
Primary cardiac arrhythmias (Atrial fibrillation / Brugada syndome / Catech. polymorphic ventricular tachycardia / Early repolaristion syndrome / Ideopathic ventricular fibrillation / Long QT syndrome / Sick sinus syndrome / Short QT syndrome) (gene pane) AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ8, KCNQ1, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TRPM4, KCND3, KCNJ5 Primary cardiac arrhythmias (113 genes) - VUB Andersen-Tawil syndrome, Brugada syndrome, Catecholaminergic polymorphic ventricular tachycardia, Early repolarization syndrome, Familial atrial fibrillation, Familial short QT syndrome, Familial sick sinus syndrome, Familial long QT syndrome, Idiopathic ventricular fibrillation, non Brugada type, Jervell and Lange-Nielsen syndrome Centrum Medische Genetica - UZ Brussel VUB
Familial hemiplegic Migraine (gene panel) Familial hemiplegic Migraine (8 genes) - KUL Familial or sporadic hemiplegic migraine Centrum Menselijke Erfelijkheid - KUL
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
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
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