Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Cowden disease / PTEN hamartoma tumor syndrome PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome Centrum Medische Genetica - UZ Gent
Cowden disease (PTEN gene) PTEN Cowden syndrome Centre de Génétique Humaine - CHU Sart-Tilman
CYP3A5*3 genotyping - drug metabolism - Pharmacogenetics CYP3A5 Tacrolimus dose selection Centre de Génétique Humaine - CHU Sart-Tilman
CYP3A4*22 genotyping - drug metabolism - Pharmacogenetics CYP3A4 Tacrolimus dose selection Centre de Génétique Médicale UCL
CYP3A5*3,(*6) genotyping - drug metabolism - Pharmacogenetics CYP3A5 Tacrolimus dose selection Centre de Génétique Médicale UCL
Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency IL12RB1 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Centrum Menselijke Erfelijkheid - KUL
Albright hereditary osteodystrophy GNAS Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism type 1A, Pseudohypoparathyroidism type 1C Centre de Génétique Humaine - Erasme ULB
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