Clinical Genomics Uppsala contributes to development of gene panels for hereditary disorders


The Clinical Genetics department at Uppsala University Hospital now offers several new gene panels for diagnostics of hereditary disorders. The gene panels were developed in collaboration with Clinical Genomics Uppsala.

Clinical Genomics Uppsala develops new diagnostic tests for healthcare in close collaboration with the Clinical Genetics department. The new gene panels offered for routine diagnostics target genes associated with neuromuscular diseases, neuropathy, arrhythmia, cardiomyopathy, epilepsy, periodic fever and hereditary hemorrhagic telangiectasia. They are based on Twist Bioscience target enrichment and whole exome sequencing.

Read more about new analyses at the Clinical Genetics department (in Swedish).

Last modified: 2024-02-23