Genetic tests

Full name Analytes Gene panels Disease Laboratory
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene) C9ORF72 Amyotrophic lateral sclerosis, Frontotemporal dementia with motor neuron disease, Behavioral variant of frontotemporal dementia, Huntington disease-like syndrome due to C9ORF72 expansions Centrum Menselijke Erfelijkheid - KUL
Alzheimer disease (gene panel) APP, PSEN1, PSEN2, APOE Early-onset autosomal dominant Alzheimer disease, Behavioral variant of frontotemporal dementia, Semantic dementia, Progressive non-fluent aphasia Centre de Génétique Humaine - Erasme ULB
Dicer1 tumor predisposition syndrome DICER1 Familial multinodular goiter, DICER1 tumor-predisposition syndrome, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary, Gynandroblastoma Centrum Medische Genetica - UZ Gent
Congenital disorder of glycosylation (3 genes) Congenital disorder of glycosylation (3 genes) - KUL PMM2-CDG, ALG6-CDG, Congenital disorder of glycosylation Centrum Menselijke Erfelijkheid - KUL
Cardiomyopathy, hereditary (gene panel) Cardiomyopathy, hereditary (208 genes) - VUB Familial isolated arrhythmogenic ventricular dysplasia, biventricular form, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form, Familial isolated dilated cardiomyopathy, Familial isolated restrictive cardiomyopathy, Left ventricular noncompaction Centrum Medische Genetica - UZ Brussel VUB
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