Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutation - p.Asn540) FGFR3 Hypochondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540Lys) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (Hotspot mutation p.(Asn540Lys)) FGFR3 Hypochondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation MLH1, BRAF Selection of therapeutic option in colorectal cancer Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L) BCL11A, HBG2, HBS1L Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hemoglobinopathy Toms River Centre de Génétique Humaine - Erasme ULB
Hereditary angioneurotic edema (2 genes) F12, SERPING1 C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2 Centre de Génétique Médicale UCL
Hereditary Angioedema (7 genes) PLG, F12, SERPING1, ANGPT1, KNG1 Angioedema (7 genes) - IPG F12-related hereditary angioedema with normal C1Inh, Hereditary angioedema type 1, Hereditary angioedema type 2, PLG-related hereditary angioedema with normal C1Inh Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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