Genetic tests

Full name Analytes Gene panels Disease Laboratory
Mc Ardle disease, glycogene storage disease type V PYGM Glycogen storage disease due to muscle glycogen phosphorylase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Fabry disease GLA Fabry disease Centrum Medische Genetica - UZ Gent
Fabry disease GLA Fabry disease Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Enzymatic dosage Fabry disease Fabry disease Centrum Medische Genetica - UZ Brussel VUB
Li-Fraumeni syndrome TP53 Li-Fraumeni syndrome Centrum Menselijke Erfelijkheid - KUL
Li-Fraumeni Syndrome TP53 Li-Fraumeni syndrome Centre de Génétique Médicale UCL
Li-Fraumeni Syndrome TP53 Li-Fraumeni syndrome Centrum Medische Genetica - UZ Gent
Breast cancer, hereditary / Li-Fraumeni syndrome (Hot spot mutation - 1100delC) CHEK2 Li-Fraumeni syndrome, Hereditary breast and/or ovarian cancer syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Li-Fraumeni Syndrome (TP53 gene) TP53 Li-Fraumeni syndrome Centre de Génétique Humaine - CHU Sart-Tilman
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
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