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
Anterior segment dysgenesis		Anterior segment dysgenesis - UGent	Anterior segment developmental anomaly, Axenfeld-Rieger syndrome, Rieger anomaly	Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes	Chromosome 21, Chromosome 13, Chromosome 18		Down syndrome, Trisomy 13, Trisomy 18	Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes	Chromosome 21, Chromosome 13, Chromosome 18		Down syndrome, Trisomy 13, Trisomy 18	Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes	Chromosome 21, Chromosome 13, Chromosome 18		Down syndrome, Trisomy 13, Trisomy 18	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)