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Analytes
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Disease
Laboratory
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
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
CYP2B6*6,*11,*18 genotyping - drug metabolism - Pharmacogenetics
CYP2B6
Efavirenz toxicity
Centre de Génétique Médicale UCL
Paraganglioma-pheochromocytoma (gene panel)
SDHA
,
SDHB
,
SDHC
,
SDHD
,
SDHAF2
,
RET
,
VHL
,
NF1
Paraganglioma-pheochromocytoma (7 genes) - KUL
Hereditary pheochromocytoma-paraganglioma
Centrum Menselijke Erfelijkheid - KUL
Pheochromocytoma - paraganglioma syndrome (gene panel)
SDHB
,
SDHC
,
SDHD
,
SDHA
,
MAX
,
TMEM127
,
SDHAF2
,
VHL
,
RET
,
SUCLG2
Pheochromocytoma - paraganglioma syndrome - UGent
Hereditary pheochromocytoma-paraganglioma
Centrum Medische Genetica - UZ Gent
Paraganglioma-pheochromocytoma (6 genes) - ULG
RET
,
VHL
,
SDHA
,
SDHB
,
SDHC
,
SDHD
Paraganglioma-pheochromocytoma (6 genes) - ULG
Hereditary pheochromocytoma-paraganglioma
,
Von Hippel-Lindau disease
,
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
Centre de Génétique Humaine - CHU Sart-Tilman
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