Genetic tests

Full name Analytes Gene panels Disease Laboratory
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel) Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic kidney disease, Isolated polycystic liver disease, Infantile nephronophthisis, Juvenile nephronophthisis, Late-onset nephronophthisis, Bardet-Biedl syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Swachman-Bodian-Diamond syndrome SBDS Shwachman-Diamond syndrome Centrum Menselijke Erfelijkheid - KUL
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene) GAA Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Medulloblastoma (gene panel) SUFU, TP53, PTCH1 Medulloblastoma (3 genes) - KUL Medulloblastoma Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes) PTCH1, PTCH2, SUFU Medulloblastoma (3 genes) - UCL Medulloblastoma , Gorlin syndrome Centre de Génétique Médicale UCL
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