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Analytes
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Laboratory
Kabuki syndrome (gene panel)
KMT2D
,
KDM6A
,
KMT2A
,
HNRNPK
,
RAP1A
,
RAP1B
,
PACS1
Kabuki (7 genes) - IPG
Kabuki syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Feingold syndrome
MYCN
Feingold syndrome type 1
Centrum Medische Genetica - UZ Gent
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
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
Sessile serrated polyposis syndrome (RNF43 gene)
RNF43
Serrated polyposis syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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