Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene) GAA Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Hypocalciuric hypercalcemia, familial type II GNA11 Familial hypocalciuric hypercalcemia type 2 Centre de Génétique Humaine - CHU Sart-Tilman
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease SH2D1A X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to SH2D1A deficiency Centrum Menselijke Erfelijkheid - KUL
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