Genetic tests

Full name Analytes Gene panels Disease Laboratory
Bloom syndrome BLM Bloom syndrome Centrum Medische Genetica - UZ Gent
Breast and Ovarian Cancer, HBOC, Hereditary Breast and ovarian cancer - UGent Hereditary breast cancer, Hereditary breast and/or ovarian cancer syndrome Centrum Medische Genetica - UZ Gent
Brugada syndrome SCN5A Brugada syndrome Centrum Medische Genetica - UZ Gent
Buschke-Ollendorff / Melorheostosis with Osteopoikilosis LEMD3 Buschke-Ollendorff syndrome, Melorheostosis with osteopoikilosis, Isolated osteopoikilosis Centrum Medische Genetica - UZ Gent
Butyrylcholinesterase deficiency - Pharmacogenetics BCHE Butyrylcholinesterase deficiency Centrum Medische Genetica - UZ Gent
Cardiomyopathy, hypertrophic Hypertrophic cardiomyopathy - UGent Familial isolated dilated cardiomyopathy Centrum Medische Genetica - UZ Gent
Cataract (gene panel) Cataract - UGent Centrum Medische Genetica - UZ Gent
Choroideremia CHM Choroideremia Centrum Medische Genetica - UZ Gent
Ciliopathy (gene panel) Ciliopathy (120 genes) - UGent Centrum Medische Genetica - UZ Gent
Congenital Central Hypoventilation Syndrome / Ondine syndrome PHOX2B Congenital central hypoventilation syndrome Centrum Medische Genetica - UZ Gent
Congenital structural heart defects (gene panel) Congenital structural heart defects - UGent Centrum Medische Genetica - UZ Gent
Cowden disease / PTEN hamartoma tumor syndrome PTEN Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome Centrum Medische Genetica - UZ Gent
Cutis Laxa / Geroderma osteodysplasticum (gene panel) Cutis Laxa / Geroderma osteodysplasticum - UGent Autosomal dominant cutis laxa, Geroderma osteodysplastica Centrum Medische Genetica - UZ Gent
Cystic Fibrosis CFTR Cystic fibrosis Centrum Medische Genetica - UZ Gent
Deficiency of Vitamin K-Dependent Clotting Factors VKORC1, GGCX Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
Disorders of sex development - Primary Ovarian insufficiency - Hypogonadotropic Hypogonadism (gene panel) Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent Centrum Medische Genetica - UZ Gent
Ectopia lentis LTBP2, ADAMTSL4, FBN1 Isolated ectopia lentis Centrum Medische Genetica - UZ Gent
Ectrodactyly / cleft lip/palate syndrome type 3 / Ectodermal dysplasia Ectrodactyly / cleft lip/palate / Ectodermal dysplasia - UGent Centrum Medische Genetica - UZ Gent
Ehlers-Danlos Syndrome, vascular type (type IV) COL3A1 Vascular Ehlers-Danlos syndrome Centrum Medische Genetica - UZ Gent
Enhanced S-Cone Syndrome NR2E3 Goldmann-Favre syndrome Centrum Medische Genetica - UZ Gent