Genetic tests

Full name Analytes Gene panels Disease Laboratory
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / ISS SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centre de Génétique Humaine - CHU Sart-Tilman
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
Anterior segment dysgenesis Anterior segment dysgenesis - UGent Anterior segment developmental anomaly, Axenfeld-Rieger syndrome, Rieger anomaly Centrum Medische Genetica - UZ Gent
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