Genetic tests

Full name Analytes Gene panels Disease Laboratory
Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln) HADHA Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cardiomyopathy, hereditary (gene panel) Cardiomyopathy, hereditary (208 genes) - VUB Familial isolated arrhythmogenic ventricular dysplasia, biventricular form, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form, Familial isolated dilated cardiomyopathy, Familial isolated restrictive cardiomyopathy, Left ventricular noncompaction Centrum Medische Genetica - UZ Brussel VUB
MODY : Maturity onset Diabete of the Young (gene panel) ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11 MODY - Maturity onset Diabete of the Young (21 genes) - IPG MODY Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (gene panel) Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA MODY Centrum Medische Genetica - UZ Antwerpen
Familial Thoracic Aortic Aneurysm (gene panel) Familial Thoracic Aortic Aneurysm (21 genes) - UGent Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome Centrum Medische Genetica - UZ Gent
Aneurysm, Thoracic Aortic, familial (gene panel) Familial Thoracic Aortic Aneurysm (genepanel) - UZA Familial thoracic aortic aneurysm and aortic dissection Centrum Medische Genetica - UZ Antwerpen