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Laboratory
Craniosynostosis syndromes (Apert, Crouzon)
FGFR2
Crouzon syndrome
,
Apert syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Crouzon syndrome (hot spot mutation - exon 9)
FGFR3
Crouzon syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)
SMARCB1
,
SMARCA4
Rhabdoid tumor predisposition syndrome
Centrum Menselijke Erfelijkheid - KUL
Cholestasis, progressive familial intrahepatic (gene panel)
ABCB11
,
ABCB4
,
ATP8B1
,
NR1H4
,
TJP2
Cholestasis, progressive familial intrahepatic (5 genes) - UCL
Progressive familial intrahepatic cholestasis type 1
,
Progressive familial intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Progressive familial intrahepatic cholestasis type 4
,
Progressive familial intrahepatic cholestasis type 5
,
Benign recurrent intrahepatic cholestasis type 1
,
Benign recurrent intrahepatic cholestasis type 2
Centre de Génétique Médicale UCL
Hemophilia A
F8
Hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Mild hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centre de Génétique Médicale UCL
Hemophilia A
F8
Hemophilia A
,
Mild hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centrum Menselijke Erfelijkheid - KUL
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