Genetic tests

Full name Analytes Gene panels Disease Laboratory
Achromatopsia CNGB3, CNGA3 Achromatopsia (2 genes) - UGent Achromatopsia Centrum Medische Genetica - UZ Gent
Colorectal cancer, hereditary (gene panel) Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent Centrum Medische Genetica - UZ Gent
Aniridia PAX6 Aniridia-cerebellar ataxia-intellectual disability syndrome, Isolated aniridia Centrum Medische Genetica - UZ Gent
Anterior segment dysgenesis Anterior segment dysgenesis - UGent Anterior segment developmental anomaly, Axenfeld-Rieger syndrome, Rieger anomaly Centrum Medische Genetica - UZ Gent
Arterial Tortuosity Syndrome SLC2A10, EFEMP2 Arterial tortuosity syndrome Centrum Medische Genetica - UZ Gent
Ataxia Spasticity (gene panel) Ataxia Spasticity - UGent Centrum Medische Genetica - UZ Gent
Ataxia telangiectasia ATM Ataxia-telangiectasia Centrum Medische Genetica - UZ Gent
Congenital contractural arachnodactyly (Arthrogryposis Distal Type 9 / Beals-Hecht syndrome) FBN2 Congenital contractural arachnodactyly Centrum Medische Genetica - UZ Gent
Bethlem myopathy / Ullrich congenital muscular dystrophy / Myosclerosis Myopathy Bethlem myopathy / Ullrich / Myosclerosis Myopathy - UGent Centrum Medische Genetica - UZ Gent
Bicuspid aortic valve Bicuspid aortic valve - UGent Centrum Medische Genetica - UZ Gent
Birt-Hogg-Dubé syndrome FLCN Birt-Hogg-Dubé syndrome Centrum Medische Genetica - UZ Gent
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
Cadasil (exons of EGFL domains (2 - 24 )) NOTCH3 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy 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
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