Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Hereditary Spastic Paraplegia (94 genes) Hereditary Spastic Paraplegia (94 genes) - KUL Hereditary spastic paraplegia Centrum Menselijke Erfelijkheid - KUL
Neuroblastoma (2 genes) ALK, PHOX2B Neuroblastoma (2 genes) - UCL Neuroblastoma Centre de Génétique Médicale UCL
Renal carcinoma (4 genes) MET, FH, FLCN, VHL Renal carcinoma (4 genes) - UCL Clear cell renal carcinoma Centre de Génétique Médicale UCL
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centre de Génétique Médicale UCL
Oligodontia-colorectal cancer syndrome AXIN2 Oligodontia-cancer predisposition syndrome Centre de Génétique Médicale UCL
Carney syndrome PRKAR1A Carney complex Centre de Génétique Médicale UCL
Von Hippel Lindau disease VHL Von Hippel-Lindau disease Centre de Génétique Médicale UCL
Cylindromatosis CYLD Familial cylindromatosis Centre de Génétique Médicale UCL
Hirschsprung disease RET Hirschsprung disease Centrum Menselijke Erfelijkheid - KUL
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)
Neurodegeneration (gene panel) Neurodegeneration (99 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cystic Fibrosis, newborn screening (12 hot spot mutations; CFTR) CFTR Cystic fibrosis Centrum Medische Genetica - UZ Antwerpen
Epilepsy (gene panel) Rare epilepsy with developmental delay (> 240 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
Brain malformations (gene panel) Brain malformations (34 genes) - ULB Septopreoptic holoprosencephaly, Semilobar holoprosencephaly, Pituitary stalk interruption syndrome, Midline interhemispheric variant of holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Encephalocraniocutaneous lipomatosis, Hartsfield syndrome, Non-syndromic metopic craniosynostosis, Pfeiffer syndrome type 1, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Combined pituitary hormone deficiencies, genetic forms, Situs ambiguus, Situs inversus totalis, Gorlin syndrome, Schilbach-Rott syndrome, Triphalangeal thumb-polysyndactyly syndrome, Acquired schizencephaly, Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome, Radial hemimelia, Polydactyly of a triphalangeal thumb, Syndactyly type 4, Acrocallosal syndrome, Desmoplastic/nodular medulloblastoma, Familial multiple meningioma, Meningioma, Congenital non-communicating hydrocephalus, MASA syndrome, X-linked complicated corpus callosum dysgenesis, X-linked complicated spastic paraplegia type 1, Congenital communicating hydrocephalus Centre de Génétique Humaine - Erasme ULB
Whole exome sequencing Centre de Génétique Médicale UCL
Ehlers-Danlos syndroom, EDS (gene panel) Ehlers-Danlos syndrome -UGent Centrum Medische Genetica - UZ Gent
Osteogenesis imperfecta / Osteoporose (gene panel) Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Menselijke Erfelijkheid - KUL
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
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