Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Multiple epiphyseal dysplasia COL2A1, SLC26A2 Multiple epiphyseal dysplasia type 4 Centrum Medische Genetica - UZ Gent
Spondylo-epiphyseal dysplasia NKX3-2, COL2A1 Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel) COL2A1, COL11A1, COL9A1, COL9A2 Stickler syndrome (4 genes) - UZA Stickler syndrome type 1, Stickler syndrome type 2, Autosomal recessive Stickler syndrome Centrum Medische Genetica - UZ Antwerpen
Congenital Central Hypoventilation Syndrome / Ondine syndrome PHOX2B Congenital central hypoventilation syndrome Centrum Medische Genetica - UZ Gent
Neuroblastoma (2 genes) ALK, PHOX2B Neuroblastoma (2 genes) - UCL Neuroblastoma Centre de Génétique Médicale UCL
Cerebral cavernous malformation (gene panel) KRIT1, CCM2, PDCD10 Cerebral cavernous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Familial cerebral cavernous malformation Centre de Génétique Médicale UCL
Hereditary angioneurotic edema (2 genes) F12, SERPING1 C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2 Centre de Génétique Médicale UCL
Hereditary Angioedema (7 genes) PLG, F12, SERPING1, ANGPT1, KNG1 Angioedema (7 genes) - IPG F12-related hereditary angioedema with normal C1Inh, Hereditary angioedema type 1, Hereditary angioedema type 2, PLG-related hereditary angioedema with normal C1Inh Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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