Genetic tests

Full name Analytes Gene panels Disease Laboratory
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis COL2A1 Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 Centrum Medische Genetica - UZ Gent
Multiple epiphyseal dysplasia COL2A1, SLC26A2 Multiple epiphyseal dysplasia type 4 Centrum Medische Genetica - UZ Gent
Spondylo-epiphyseal dysplasia NKX3-2, COL2A1 Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel) COL2A1, COL11A1, COL9A1, COL9A2 Stickler syndrome (4 genes) - UZA Stickler syndrome type 1, Stickler syndrome type 2, Autosomal recessive Stickler syndrome Centrum Medische Genetica - UZ Antwerpen
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centrum Menselijke Erfelijkheid - KUL
Renal carcinoma (4 genes) MET, FH, FLCN, VHL Renal carcinoma (4 genes) - UCL Clear cell renal carcinoma Centre de Génétique Médicale UCL
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centre de Génétique Médicale UCL
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