Genetic tests

Full name Analytes Gene panels Disease Laboratory
Pituitary adenoma (5 genes) AIP, CDKN1B, MEN1, RET, PRKAR1A Pituitary adenoma (5 genes) - UCL Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Prolactinoma, Pituitary gigantism, Acromegaly Centre de Génétique Médicale UCL
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
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder ( Martinez-Frias) syndrome RFX6 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
CYP2C19*2,*3,*17 genotyping - drug metabolism - Pharmacogenetics CYP2C19 Antidepressant or antipsychotic toxicity or dose selection, Resistance to clopidogrel, Voriconazole toxicity Centre de Génétique Médicale UCL
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics CYP2D6 Codeine toxicity, Resistance to tamoxifene, Antidepressant or antipsychotic toxicity or dose selection Centre de Génétique Médicale UCL
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