Genetic tests

Full name Analytes Gene panels Disease Laboratory
Rett syndrome / MECP2 Duplication Syndrome MECP2 Rett syndrome Centrum Menselijke Erfelijkheid - KUL
Rett syndrome MECP2 Rett syndrome, Atypical Rett syndrome 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
Generalized Arterial Calcification of Infancy ENPP1, ABCC6 Generalized arterial calcification of infancy Centrum Medische Genetica - UZ Gent
Vascular mineralisation ANKH, NT5E, ENPP1 Centrum Medische Genetica - UZ Gent
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion ATXN8, TBP, ATN1 Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 17, Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
Azoo-oligospermia (microdeletion of 3' regions of Y chromosome AZF a, b and c) Yq11 Partial chromosome Y deletion Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c ) Yq11 Partial chromosome Y deletion Centre de Génétique Médicale UCL
Male infertility Yq11, CFTR, USP9Y Partial chromosome Y deletion, Congenital bilateral absence of vas deferens Centre de Génétique Médicale UCL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c ) Yq11 Partial chromosome Y deletion Centrum Medische Genetica - UZ Gent
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c ) Yq11 Partial chromosome Y deletion Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centrum Medische Genetica - UZ Antwerpen
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centrum Menselijke Erfelijkheid - KUL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centre de Génétique Humaine - Erasme ULB
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centrum Medische Genetica - UZ Brussel VUB
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centre de Génétique Humaine - CHU Sart-Tilman