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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
ACTH-independent macronodular adrenal hyperplasia 2 / Cushing syndrome
ARMC5
Cushing syndrome due to bilateral macronodular adrenocortical disease
Centre de Génétique Médicale UCL
Ectopia lentis
LTBP2
,
ADAMTSL4
,
FBN1
Isolated ectopia lentis
Centrum Medische Genetica - UZ Gent
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type
LTBP2
Weill-Marchesani syndrome
,
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Centrum Medische Genetica - UZ Gent
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