Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7, Spinocerebellar ataxia type 17 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Brussel VUB
Primary cardiac arrhythmias (Atrial fibrillation / Brugada syndome / Catech. polymorphic ventricular tachycardia / Early repolaristion syndrome / Ideopathic ventricular fibrillation / Long QT syndrome / Sick sinus syndrome / Short QT syndrome) (gene pane) AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ8, KCNQ1, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TRPM4, KCND3, KCNJ5 Primary cardiac arrhythmias (113 genes) - VUB Andersen-Tawil syndrome, Brugada syndrome, Catecholaminergic polymorphic ventricular tachycardia, Early repolarization syndrome, Familial atrial fibrillation, Familial short QT syndrome, Familial sick sinus syndrome, Familial long QT syndrome, Idiopathic ventricular fibrillation, non Brugada type, Jervell and Lange-Nielsen syndrome Centrum Medische Genetica - UZ Brussel VUB
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