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Laboratory
Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics
UGT1A1
Transient familial neonatal hyperbilirubinemia
,
Irinotecan toxicity
,
Raltegravir toxicity
Centre de Génétique Médicale UCL
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
,
Transient familial neonatal hyperbilirubinemia
Centrum Menselijke Erfelijkheid - KUL
Capillary malformation - arteriovenous malformation (2 genes)
RASA1
,
EPHB4
Capillary/arteriovenous malformation (2 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Capillary malformation-arteriovenous malformation
,
Vein of Galen aneurysmal malformation
,
Parkes Weber syndrome
Centre de Génétique Médicale UCL
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
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
,
Vascular malformations (germline) (38 genes) - UCL
Hereditary hemorrhagic telangiectasia
,
Heritable pulmonary arterial hypertension
,
Familial cerebral saccular aneurysm
,
Vein of Galen aneurysmal malformation
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
,
Capillary malformation-arteriovenous malformation
,
Parkes Weber syndrome
,
Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Melanoma (6 genes)
BAP1
,
CDK4
,
CDKN2A
,
MC1R
,
MITF
,
POT1
Melanoma (6 genes) - UCL
Familial melanoma
,
MITF-related melanoma and renal cell carcinoma predisposition syndrome
,
Uveal melanoma
,
Melanoma of soft tissue
Centre de Génétique Médicale UCL
Familial Thoracic Aortic Aneurysm (gene panel)
Familial Thoracic Aortic Aneurysm (21 genes) - UGent
Familial thoracic aortic aneurysm and aortic dissection
,
Loeys-Dietz syndrome
Centrum Medische Genetica - UZ Gent
Aneurysm, Thoracic Aortic, familial (gene panel)
Familial Thoracic Aortic Aneurysm (genepanel) - UZA
Familial thoracic aortic aneurysm and aortic dissection
Centrum Medische Genetica - UZ Antwerpen
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