Genetic tests

Full name Analytes Gene panels Disease Laboratory
Cholestasis, intrahepatic (1 gene among ATP8B1, ABCB11,ABCB4) ATP8B1, ABCB11, ABCB4 Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Intrahepatic cholestasis of pregnancy Centre de Génétique Humaine - CHU Sart-Tilman
Alzheimer disease (gene panel) APP, PSEN1, PSEN2, APOE Early-onset autosomal dominant Alzheimer disease, Behavioral variant of frontotemporal dementia, Semantic dementia, Progressive non-fluent aphasia Centre de Génétique Humaine - Erasme ULB
Oculocutaneous albinism / Ocular albinism / Isolated nystagmus (gene panel) Oculocutaneous albinism / Ocular albinism - UGent Centrum Medische Genetica - UZ Gent
Optic atrophy (gene panel) Optic atrophy - UGent Centrum Medische Genetica - UZ Gent
Glaucoma (gene panel) Glaucoma - UGent Centrum Medische Genetica - UZ Gent
Nephrogenetics / Nephropathy (gene panel) Nephropathy panel - UGent Centrum Medische Genetica - UZ Gent
Catecholaminergic polymorphic ventricular tachycardia (CPVT) Catecholaminergic polymorphic ventricular tachycardia (CPVT) - UGent Catecholaminergic polymorphic ventricular tachycardia Centrum Medische Genetica - UZ Gent
Retinoschisis, XL RS1 X-linked retinoschisis Centrum Medische Genetica - UZ Gent
Hyperparathyroidism (gene panel) Hyperparathyroidism (3 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) - Pharmacogenetics DPYD Dihydropyrimidine dehydrogenase deficiency Centrum Medische Genetica - UZ Gent
Renal cell carcinoma (kidney cancer) (gene panel) Renal cell carcinoma - UGent Centrum Medische Genetica - UZ Gent
Pancreatic cancer, familial (gene panel) Familial pancreatic cancer Centrum Medische Genetica - UZ Gent
Dicer1 tumor predisposition syndrome DICER1 Familial multinodular goiter, DICER1 tumor-predisposition syndrome, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary, Gynandroblastoma Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) DPYD Dihydropyrimidine dehydrogenase deficiency Centrum Menselijke Erfelijkheid - KUL
Microsatellites instability analysis- MMR genes MLH1, MSH2, MSH6, PMS2 Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Humaine - CHU Sart-Tilman
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
Breast and Ovarian Cancer, HBOC, Familial (12 genes) Breast/Ovarian cancer (12 genes) - IPG Hereditary breast and/or ovarian cancer syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hirschsprung disease RET Hirschsprung disease Centre de Génétique Médicale UCL
Hypocalciuric Hypercalcemia, Neonatal Severe Hyperparathyroidism, Hypocalcemia CASR Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Menselijke Erfelijkheid - KUL
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