Genetic tests

Full name Analytes Gene panels Disease Laboratory
Gorlin syndrome (gene panel) PTCH1, PTCH2, SUFU Gorlin syndrome (3 genes) Gorlin syndrome Centre de Génétique Médicale UCL
Medulloblastoma (gene panel) SUFU, TP53, PTCH1 Medulloblastoma (3 genes) - KUL Medulloblastoma Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes) PTCH1, PTCH2, SUFU Medulloblastoma (3 genes) - UCL Medulloblastoma , Gorlin syndrome Centre de Génétique Médicale UCL
Overgrowth & vascular anomalies / Proteus syndrome (c.49G>A (p.Glu17Lys) mutation) AKT1 Proteus syndrome 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
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centrum Menselijke Erfelijkheid - KUL
Renal carcinoma (4 genes) MET, FH, FLCN, VHL Renal carcinoma (4 genes) - UCL Clear cell renal carcinoma Centre de Génétique Médicale UCL
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centre de Génétique Médicale UCL
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - UCL Hereditary chronic pancreatitis Centre de Génétique Médicale UCL
Pancreatitis, hereditary (7 genes) CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1 Pancreatitis (7 genes) - ULB Hereditary chronic pancreatitis Centre de Génétique Humaine - Erasme ULB
Pancreatitis, idiopathic or hereditary (7 genes) CFTR, SPINK1, PRSS1, CTRC, CASR, CLDN2, CPA1 Pancreatitis (7 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
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