Genetic tests

Full name Analytes Gene panels Disease Laboratory
Homocystinuria (hot spot mutation - c.677C>T) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Ectopia lentis LTBP2, ADAMTSL4, FBN1 Isolated ectopia lentis Centrum Medische Genetica - UZ Gent
Dicer1 tumor predisposition syndrome DICER1 Familial multinodular goiter, DICER1 tumor-predisposition syndrome, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary, Gynandroblastoma Centrum Medische Genetica - UZ Gent
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