تسلسل الإكسوم الكامل - منفرد

This complete Solo exome sequencing series aims to identify gene sets for diagnosing rare genetic disorders by analyzing nearly all protein-coding genes in the human genome in one test, including single nucleotide variations and small insertions/deletions and copy number variations. It includes routine case-level reanalysis every 6-12 months for two years.

• The description claims that the test may discover incidental genetic changes of medical importance but not directly related to the primary reason for exome sequencing.
• The description claims that Enigma Genomics will notify relevant policy makers about any incidental results related to adult neurodegenerative disorders without intervention options.