Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing
- Meghan Towne, MS, CGC, LCGC
- April 2, 2024
The ability of exome sequencing (ES) to detect variants across the genetic code makes it a powerful diagnostic tool, reducing the number of tests and time to diagnose patients with rare disorders. However, with this broad detection range comes the challenge of identifying which of hundreds or thousands of rare variants may be clinically meaningful …
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APC: New Takes on an Old Gene
- March 28, 2024
The Benefits of RNA Testing for Neurological Disorders
- March 19, 2024
Celebrating Women's History Month
- March 7, 2024
Transforming Fear into Action and Advocacy: Our Family’s Lynch Syndrome Story
- Noelle Carbognin
- March 22, 2024
It has been almost 3 years since my father was offered genetic testing after developing three different types of cancers. He also had an alarming family history – multiple relatives with cancer, going back generations. After he received a positive result for Lynch Syndrome, putting him at an increased risk for colon cancer and other types of …
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