Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hepatorenal disorders (gene panel) BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216 Hepatorenal disorders (13 genes) - UCL GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease Centre de Génétique Médicale UCL
Susceptibility to pancreatitis induced by thiopurine immunosuppressants Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Humaine - CHU Sart-Tilman
Thiopurine S-Methyltransferase deficiency - TPMT genotyping of 3 polymorphisms - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centrum Menselijke Erfelijkheid - KUL
TPMT and NUDT15 sequencing - Pharmacogenetics TPMT, NUDT15 Cisplatin toxicity, Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Médicale UCL
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Humaine - Erasme ULB
Thiopurine S-Methyltransferase deficiency - TPMT genotyping - TPMT*2/ TPMT*3A/3B/3C - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection 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
Deficiency of Vitamin K-Dependent Clotting Factors VKORC1, GGCX Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency GGCX Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
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