Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Venous malformation (3 genes) TEK, GLMN Venous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Blue rubber bleb nevus, Mucocutaneous venous malformations, Glomuvenous malformation, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Juvenile polyposis of infancy, Proteus syndrome, Proteus-like syndrome, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Centre de Génétique Médicale UCL
Occipital horn syndrome / Distal Spinal Muscular atrophy ATP7A Occipital horn syndrome, X-linked distal spinal muscular atrophy type 3 Centrum Medische Genetica - UZ Gent
MODY : Maturity onset Diabete of the Young (gene panel) ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11 MODY - Maturity onset Diabete of the Young (21 genes) - IPG MODY Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (gene panel) Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA MODY Centrum Medische Genetica - UZ Antwerpen