Genetic tests

Full name Analytes Gene panels Disease Laboratory
Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy CSTB Progressive myoclonic epilepsy type 1 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene) GAA Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Paraganglioma-pheochromocytoma (gene panel) SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1 Paraganglioma-pheochromocytoma (7 genes) - KUL Hereditary pheochromocytoma-paraganglioma Centrum Menselijke Erfelijkheid - KUL
Pheochromocytoma - paraganglioma syndrome (gene panel) SDHB, SDHC, SDHD, SDHA, MAX, TMEM127, SDHAF2, VHL, RET, SUCLG2 Pheochromocytoma - paraganglioma syndrome - UGent Hereditary pheochromocytoma-paraganglioma Centrum Medische Genetica - UZ Gent
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
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction OTX2 Syndromic microphthalmia type 5, Combined pituitary hormone deficiencies, genetic forms, Butterfly-shaped pigment dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Combined pituitary hormone deficiency 1 (CPHD - POU1F1 gene) POU1F1 Combined pituitary hormone deficiencies, genetic forms Centrum Medische Genetica - UZ Brussel VUB
Combined pituitary hormone deficiency 2 (CPHD - PROP1 gene) PROP1 Combined pituitary hormone deficiencies, genetic forms 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
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