Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene) FGFR3 Thanatophoric dysplasia type 2, Thanatophoric dysplasia type 1 Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys) FGFR3 Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2 Centrum Medische Genetica - UZ Antwerpen
Leydig cell hypoplasia or Precocious puberty, male-limited LHCGR Familial peripheral male-limited precocious puberty, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to complete LH resistance Centre de Génétique Humaine - Erasme ULB
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