Genetic tests

Full name Analytes Gene panels Disease Laboratory
Von Willebrand disease VWF Von Willebrand disease type 1, Von Willebrand disease type 2A, Von Willebrand disease type 2M, Von Willebrand disease type 2B, Von Willebrand disease type 2N, Von Willebrand disease type 3 Centrum Medische Genetica - UZ Antwerpen
Schinzel-Giedion midface retraction syndrome SETBP1 Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Schinzel-Giedion syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*) ASPA Mild Canavan disease, Severe Canavan disease Centrum Medische Genetica - UZ Antwerpen
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Familial medullary thyroid carcinoma Centrum Menselijke Erfelijkheid - KUL
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma Centre de Génétique Humaine - Erasme ULB
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma, Hirschsprung disease Centrum Medische Genetica - UZ Gent
Medullary thyroid carcinoma RET Medullary thyroid carcinoma (3 genes) - UCL Familial medullary thyroid carcinoma Centre de Génétique Médicale UCL
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