Genetic tests

Full name Analytes Gene panels Disease Laboratory
Craniosynostosis syndromes (Apert, Crouzon) FGFR2 Crouzon syndrome, Apert syndrome Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Crouzon syndrome (hot spot mutation - exon 9) FGFR3 Crouzon syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique Humaine - Erasme ULB
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel) Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel) B-cell chronic lymphocytic leukemia, Inherited acute myeloid leukemia, Chronic myeloid leukemia, Atypical chronic myeloid leukemia, Precursor B-cell acute lymphoblastic leukemia, Familial platelet disorder with associated myeloid malignancy, DDX41-related hematologic malignancy predisposition syndrome, Idiopathic aplastic anemia Centre de Génétique Humaine - CHU Sart-Tilman
Androgen insensitivity (AR gene) AR Partial androgen insensitivity syndrome, Complete androgen insensitivity syndrome Centrum Medische Genetica - UZ Brussel VUB