Genetic tests

Full name Analytes Gene panels Disease Laboratory
Blepharophimosis type I /II FOXL2 Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome, Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Centrum Medische Genetica - UZ Gent
Pituitary adenoma (4 genes) MEN1, AIP, CDKN1B, PRKAR1A Pituitary adenoma (4 genes) - ULG Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Carney complex Centre de Génétique Humaine - CHU Sart-Tilman
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
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form Centrum Medische Genetica - UZ Brussel VUB
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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