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
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
Lissencephaly 3 TUBA1A Lissencephaly due to TUBA1A mutation Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (Tubulin alpha 1A gene) TUBA1A Lissencephaly due to TUBA1A mutation Centrum Medische Genetica - UZ Brussel VUB
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
Cadasil (exons of EGFL domains (2 - 24 )) NOTCH3 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Centrum Medische Genetica - UZ Gent
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