Genetic tests | Belgian Genetic Tests database

Full name	Analytes	Gene panels	Disease	Laboratory
Cardiofaciocutaneous syndrome (5 genes)	HRAS, KRAS, BRAF, MAP2K2, MAP2K1		Cardiofaciocutaneous syndrome	Centre de Génétique Humaine - CHU Sart-Tilman
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
Hypermethylation promoter MLH1 and p.V600 of BRAF1	MLH1, BRAF		Lynch syndrome	Centrum Menselijke Erfelijkheid - KUL
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation	MLH1, BRAF		Selection of therapeutic option in colorectal cancer	Centre de Génétique Humaine - CHU Sart-Tilman
Treacher Collins (gene panel)	POLR1C, POLR1D, TCOF1	Treacher Collins (3 genes) - UZA	Treacher-Collins syndrome	Centrum Medische Genetica - UZ Antwerpen
Congenital Central Hypoventilation Syndrome / Ondine syndrome	PHOX2B		Congenital central hypoventilation syndrome	Centrum Medische Genetica - UZ Gent
Neuroblastoma (2 genes)	ALK, PHOX2B	Neuroblastoma (2 genes) - UCL	Neuroblastoma	Centre de Génétique Médicale UCL
Pompe disease, Glycogen storage disease II (GAA gene)	GAA		Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset	Centrum Medische Genetica - UZ Brussel VUB

Did not find what you were looking for? Contact us through the support center.