Genetic tests

Full name Analytes Gene panels Disease Laboratory
Peutz-Jeghers Syndrome STK11 Peutz-Jeghers syndrome Centre de Génétique Médicale UCL
Peutz-Jeghers Syndrome (STK11 gene) STK11 Peutz-Jeghers syndrome Centre de Génétique Humaine - CHU Sart-Tilman
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
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
Hypogonadotropic hypogonadism (33 genes) Hypogonadotropic hypogonadism (33 genes) - VUB Normosmic congenital hypogonadotropic hypogonadism Centrum Medische Genetica - UZ Brussel VUB
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene) FGFR1 Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism Centre de Génétique Humaine - CHU Sart-Tilman
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