Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations) CACNA1S Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene) SCN4A Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis 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
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity COL4A1, COL4A2 Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Maternal uniparental disomy of chromosome 16 Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Centrum Menselijke Erfelijkheid - KUL
Temple syndrome / Kagami-Ogata Syndrome DLK1, MEG3, RTL1 Temple syndrome due to maternal uniparental disomy of chromosome 14, Temple syndrome due to paternal 14q32.2 hypomethylation, Temple syndrome due to paternal 14q32.2 microdeletion, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Centre de Génétique Médicale UCL
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