Genetic tests

Full name Analytes Gene panels Disease Laboratory
Treacher Collins (gene panel) POLR1C, POLR1D, TCOF1 Treacher Collins (3 genes) - UZA Treacher-Collins syndrome Centrum Medische Genetica - UZ Antwerpen
Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics UGT1A1 Transient familial neonatal hyperbilirubinemia, Irinotecan toxicity, Raltegravir toxicity Centre de Génétique Médicale UCL
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity, Transient familial neonatal hyperbilirubinemia Centrum Menselijke Erfelijkheid - KUL
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
Familial Thoracic Aortic Aneurysm (gene panel) Familial Thoracic Aortic Aneurysm (21 genes) - UGent Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome Centrum Medische Genetica - UZ Gent
Aneurysm, Thoracic Aortic, familial (gene panel) Familial Thoracic Aortic Aneurysm (genepanel) - UZA Familial thoracic aortic aneurysm and aortic dissection Centrum Medische Genetica - UZ Antwerpen