Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*)	AMPD1		Adenosine monophosphate deaminase deficiency	Centrum Medische Genetica - UZ Brussel VUB
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
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)		Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (16 genes) - IPG	Hemolytic uremic syndrome with DGKE deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with H factor anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)