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Laboratory
Overgrowth & vascular anomalies / CLOVES syndrome
PIK3CA
CLOVES syndrome
Centrum Menselijke Erfelijkheid - KUL
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
Lipodystrophy (2 genes)
AGPAT2
,
BSCL2
Lipodystrophy (2 genes) - IPG
Congenital generalized lipodystrophy
,
Severe neurodegenerative syndrome with lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1
AGPAT2
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Resistance to vitamin K antagonists - VKORC1 sequencing (all exons ) - Pharmacogenetics
VKORC1
Resistance to vitamin K antagonists
,
Prediction of resistance to vitamin K antagonists
Centre de Génétique Médicale UCL
Vitamin K antagonists toxicity or dose selection - VKORC1 genotyping (-1639G>A + 1173C>T) - Pharmacogenetics
VKORC1
Vitamin K antagonists toxicity or dose selection
,
Prediction of toxicity or dose selection of vitamin K antagonists
Centre de Génétique Médicale UCL
Deficiency of Vitamin K-Dependent Clotting Factors
VKORC1
,
GGCX
Hereditary combined deficiency of vitamin K-dependent clotting factors
Centrum Medische Genetica - UZ Gent
Silver-Russell syndrome
11p15.5
,
7p12.1
,
7q32.2
Silver-Russell syndrome
,
Silver-Russell syndrome due to an imprinting defect of 11p15
,
Silver-Russell syndrome due to 11p15 microduplication
Centre de Génétique Médicale UCL
Uniparental disomy
7p12.1
,
7q32.2
Silver-Russell syndrome
Centre de Génétique Médicale UCL
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