Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Overgrowth & vascular anomalies / Proteus syndrome (c.49G>A (p.Glu17Lys) mutation)	AKT1		Proteus syndrome	Centrum Menselijke Erfelijkheid - KUL
Cowden disease / PTEN hamartoma tumor syndrome	PTEN		Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome	Centrum Medische Genetica - UZ Gent
Vascular malformations (somatic)	AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1	Vascular malformations (somatic) (19 genes) - UCL	Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome	Centre de Génétique Médicale UCL
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72	C9ORF72		Amyotrophic lateral sclerosis type 4, Frontotemporal dementia with motor neuron disease	Centrum Medische Genetica - UZ Gent
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
Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel)		Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (5 genes) - KUL	Frontotemporal dementia with motor neuron disease, Amyotrophic lateral sclerosis	Centrum Menselijke Erfelijkheid - KUL