Genetic tests

Full name Analytes Gene panels Disease Laboratory
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene) TANGO2 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Centrum Medische Genetica - UZ Brussel VUB
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
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel) Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG Alport syndrome, Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrotic syndrome - steroid resistant COQ8B Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Centre de Génétique Humaine - CHU Sart-Tilman
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