Genetic tests

Full name Analytes Gene panels Disease Laboratory
Alzheimer disease (gene panel) APP, PSEN1, PSEN2, APOE Early-onset autosomal dominant Alzheimer disease, Behavioral variant of frontotemporal dementia, Semantic dementia, Progressive non-fluent aphasia Centre de Génétique Humaine - Erasme ULB
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
Paraganglioma-pheochromocytoma (6 genes) - ULG RET, VHL, SDHA, SDHB, SDHC, SDHD Paraganglioma-pheochromocytoma (6 genes) - ULG Hereditary pheochromocytoma-paraganglioma, Von Hippel-Lindau disease, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A Centre de Génétique Humaine - CHU Sart-Tilman
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
Multiple endocrine neoplasia (3 genes) CDKN1B, MEN1, RET Multiple endocrine neoplasia (3 genes) - UCL Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 4 Centre de Génétique Médicale UCL
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis COL2A1 Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1 Centrum Medische Genetica - UZ Gent
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
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