Genetic tests

Full name Analytes Gene panels Disease Laboratory
Von Willebrand disease VWF Von Willebrand disease type 1, Von Willebrand disease type 2A, Von Willebrand disease type 2M, Von Willebrand disease type 2B, Von Willebrand disease type 2N, Von Willebrand disease type 3 Centrum Medische Genetica - UZ Antwerpen
Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome ADA2 Vasculitis due to ADA2 deficiency, Diamond-Blackfan anemia, Sneddon syndrome Centrum Menselijke Erfelijkheid - KUL
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
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis COL2A1 Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 Centrum Medische Genetica - UZ Gent
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