Persons with Undiagnosed Diseases

The whole genome sequencing procedure is applicable to persons with rare diseases that have not been successfully diagnosed with traditional medical measures. Genome sequencing can identify DNA mutation (variation) responsible for an undiagnosed disease in the subject; the chance of obtaining such a result is approximately 40%. This service is supervised by a clinical geneticist(s) who will guide the diagnostic procedure. The genomes of additional family members may need to be sequenced to provide DNA comparisons that can help to identify a potential causative mutation. The whole genome sequence will be analyzed for additional informative DNA variations. Participant(s) will receive a digital copy of their entire genome DNA sequenced, and a customizable Analysis Report based on the genome sequence data. If the diagnostic quest is successful, the supervisory medical team will provide options for future steps (if any) that the client could undertake to deal with the newly categorized condition.



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