Genetic tests

Full name Analytes Gene panels Disease Laboratory
Waardenburg Syndrome types I and III PAX3 Waardenburg syndrome type 1, Waardenburg syndrome type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Swachman-Bodian-Diamond syndrome SBDS Shwachman-Diamond syndrome Centrum Menselijke Erfelijkheid - KUL
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR) STAT1 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Susceptibility to viral and mycobacterial infections due to STAT1 deficiency, Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Centrum Menselijke Erfelijkheid - KUL
Cholestasis, progressive familial intrahepatic (gene panel) ABCB11, ABCB4, ATP8B1, NR1H4, TJP2 Cholestasis, progressive familial intrahepatic (5 genes) - UCL Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 4, Progressive familial intrahepatic cholestasis type 5, Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 2 Centre de Génétique Médicale UCL
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