Genetic tests

Full name Analytes Gene panels Disease Laboratory
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion ATN1 Dentatorubral pallidoluysian atrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion ATN1 Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion ATN1 Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion ATXN8, TBP, ATN1 Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 17, Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
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
Sturge-Weber syndrome (gene panel) Sturge-Weber syndrome (65 genes) - KUL Sturge-Weber syndrome Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
Venous malformation (3 genes) TEK, GLMN Venous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Blue rubber bleb nevus, Mucocutaneous venous malformations, Glomuvenous malformation, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Juvenile polyposis of infancy, Proteus syndrome, Proteus-like syndrome, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Centre de Génétique Médicale UCL
Cowden disease / PTEN hamartoma tumor syndrome PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome Centrum Medische Genetica - UZ Gent
Lissencephaly / subcortical band heterotopia PAFAH1B1 Lissencephaly due to LIS1 mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (LIS1 gene) PAFAH1B1 Lissencephaly due to LIS1 mutation Centrum Medische Genetica - UZ Brussel VUB
Malformations of cortical development (235 genes) Malformations of cortical development (235 genes) - VUB Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia Centrum Medische Genetica - UZ Brussel VUB