Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6) MT-ND1, MT-ND4, MT-ND6 Leber hereditary optic neuropathy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6) MT-ND1, MT-ND4, MT-ND6 LHON (3 genes) - VUB Leber hereditary optic neuropathy Centrum Medische Genetica - UZ Brussel VUB
Hemophilia A F8 Hemophilia A, Severe hemophilia A, Moderate hemophilia A, Mild hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A (inversions) F8 Severe hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A F8 Hemophilia A, Mild hemophilia A, Severe hemophilia A, Moderate hemophilia A, Bleeding disorder in hemophilia A carriers Centrum Menselijke Erfelijkheid - KUL
Hereditary Melanoma Panel (7 genes) CDKN2A, CDK4, POT1, TERT, TERF2IP, BAP1, MITF Hereditary Melanoma Panel (7 genes) - ULG Familial melanoma Centre de Génétique Humaine - CHU Sart-Tilman
Susceptibility to Cutaneous Malignant Melanoma CDK4 Familial melanoma Centre de Génétique Humaine - CHU Sart-Tilman
Melanoma (6 genes) BAP1, CDK4, CDKN2A, MC1R, MITF, POT1 Melanoma (6 genes) - UCL Familial melanoma, MITF-related melanoma and renal cell carcinoma predisposition syndrome, Uveal melanoma, Melanoma of soft tissue Centre de Génétique Médicale UCL
TPMT*2,*3A, *3B, *3C, *3D, *4 - drug metabolism - Pharmacogenetics TPMT Centre de Génétique Médicale UCL
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
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