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
Small cell carcinoma of the ovary SMARCA4 Small cell carcinoma of the ovary Centrum Medische Genetica - UZ Gent
Rare non-epithelial ovarian neoplasms (2 genes) DICER1, SMARCA4 Small cell carcinoma of the ovary, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary Centrum Menselijke Erfelijkheid - KUL
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes) SMARCB1, SMARCA4 Rhabdoid tumor predisposition syndrome 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
Agammaglobulinemia PIK3R1 Autosomal agammaglobulinemia Centrum Menselijke Erfelijkheid - KUL
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
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