Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hemochromatosis hereditary type 2 to type 5 (5 genes) HAMP, FTH1, SLC40A1, TFR2, HJV Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis, Hemochromatosis type 4, Hemochromatosis type 5 Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 4 (SLC40A1 gene) SLC40A1 Hemochromatosis type 4 Centre de Génétique Humaine - CHU Sart-Tilman
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type LTBP2 Weill-Marchesani syndrome, Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Centrum Medische Genetica - UZ Gent
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
Colon carcinoma (hereditary/familial) (gene panel) Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB APC-related attenuated familial adenomatous polyposis, Familial adenomatous polyposis, Familial colorectal cancer Type X, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary mixed polyposis syndrome, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, MUTYH-related attenuated familial adenomatous polyposis Centrum Medische Genetica - UZ Brussel VUB
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