Genetic tests

Full name Analytes Gene panels 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
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation MLH1, BRAF Selection of therapeutic option in colorectal cancer Centre de Génétique Humaine - CHU Sart-Tilman
Susceptibility to pancreatitis induced by thiopurine immunosuppressants Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Humaine - CHU Sart-Tilman
Thiopurine S-Methyltransferase deficiency - TPMT genotyping of 3 polymorphisms - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centrum Menselijke Erfelijkheid - KUL
TPMT and NUDT15 sequencing - Pharmacogenetics TPMT, NUDT15 Cisplatin toxicity, Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Médicale UCL
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Humaine - Erasme ULB
Thiopurine S-Methyltransferase deficiency - TPMT genotyping - TPMT*2/ TPMT*3A/3B/3C - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Humaine - CHU Sart-Tilman
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked FRMD7 Nystagmus, infantile periodic alternating, X-linked Centrum Medische Genetica - UZ Gent
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