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
Pituitary adenoma (4 genes)	MEN1, AIP, CDKN1B, PRKAR1A	Pituitary adenoma (4 genes) - ULG	Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Multiple endocrine neoplasia type 1, Multiple endocrine neoplasia type 4, Carney complex	Centre de Génétique Humaine - CHU Sart-Tilman
Pituitary adenoma (5 genes)	AIP, CDKN1B, MEN1, RET, PRKAR1A	Pituitary adenoma (5 genes) - UCL	Familial isolated pituitary adenoma, Silent pituitary adenoma, Null pituitary adenoma, Prolactinoma, Pituitary gigantism, Acromegaly	Centre de Génétique Médicale UCL
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome	TYMP, POLG, POLG2, RRM2B	MNGIE syndrome (4 genes) - VUB	Mitochondrial neurogastrointestinal encephalomyopathy	Centrum Medische Genetica - UZ Brussel VUB