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Updated: Jun 10, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Accurate genetic testing platform based on haploid templates: Use in inheritable colon cancer
1Consultant based at 85 Somerset Rd., Brookline, MA 02445, USA.
Abstract:
Extract: The misfortune of individuals having inherited a genetic mutation that predisposes them to cancer can become a weapon for their better management of the disease and the rest of their family members. This is what the promise of genetic testing is: to reduce the mortality and morbidity through screening, and hopefully lead to early diagnosis and even prevention of spread or the cancer itself. Inherited forms of cancer represent a good example of the benefits and complications of genetic testing. A single inherited mutant gene usually is enough to confer a high risk of cancer. The mutation is inherited from one of the parents and it is transmitted to the offspring. Other siblings may also have inherited the mutant gene. This way, some members of the family will have that one mutation and some will not. Therefore, when an inherited mutation is identified in one member of a family, the rest of the family members can be screened for the presence of this mutation. So, the mutation can be identified early, before any clinical symptoms, and this allows the potential disorder to be managed appropriately.

