Genetic tests

Full name Analytes Gene panels Disease Laboratory
Mucolipidosis II and III GNPTAB Mucolipidosis type II, Mucolipidosis type III alpha/beta Centrum Medische Genetica - UZ Brussel VUB
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
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal dominant 6/14 / Wolfram syndrome WFS1 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA, Wolfram syndrome Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centrum Medische Genetica - UZ Antwerpen
DICER1 Syndrome DICER1 Maligant granulosa cell tumor of the ovary Centrum Menselijke Erfelijkheid - KUL
Rare non-epithelial ovarian neoplasms (2 genes) DICER1, SMARCA4 Small cell carcinoma of the ovary, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary Centrum Menselijke Erfelijkheid - KUL
Dicer1 tumor predisposition syndrome DICER1 Familial multinodular goiter, DICER1 tumor-predisposition syndrome, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary, Gynandroblastoma Centrum Medische Genetica - UZ Gent