Genetic tests

Full name Analytes Gene panels Disease Laboratory
MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics MTHFR Centre de Génétique Médicale UCL
Homocystinuria (hot spot mutation - c.677C>T) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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 (2 genes) PRSS1, SPINK1 Hereditary chronic pancreatitis Centrum Medische Genetica - UZ Gent
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 hereditary (PRSS1 gene) PRSS1 Hereditary chronic pancreatitis Centre de Génétique Humaine - CHU Sart-Tilman
Pancreatitis, idiopathic or hereditary (7 genes) CFTR, SPINK1, PRSS1, CTRC, CASR, CLDN2, CPA1 Pancreatitis (7 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centrum Medische Genetica - UZ Antwerpen
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