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
Venous malformation (3 genes) TEK, GLMN Venous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Blue rubber bleb nevus, Mucocutaneous venous malformations, Glomuvenous malformation, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Juvenile polyposis of infancy, Proteus syndrome, Proteus-like syndrome, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Centre de Génétique Médicale UCL
Lissencephaly / subcortical band heterotopia PAFAH1B1 Lissencephaly due to LIS1 mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (LIS1 gene) PAFAH1B1 Lissencephaly due to LIS1 mutation Centrum Medische Genetica - UZ Brussel VUB
Malformations of cortical development (235 genes) Malformations of cortical development (235 genes) - VUB Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia Centrum Medische Genetica - UZ Brussel VUB
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