Pioneering New Research to Support Rare Disease Patients and Families

From Lynch Syndrome Diagnosis to Advocacy: A Patient and Genetic Counselor Reconnect

The Importance of TCLR in Mismatch Repair Variant Classification: A Genetic Counselor’s Perspective
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Pioneering New Research to Support Rare Disease Patients and Families
  • Elizabeth Chao, MD, FACMG
  • October 10, 2024

Unlocking the mysteries of the genome is our life’s work. Since the launch of our first clinical genomic test for identifying the genetic cause of rare diseases, we’ve sought ways to leverage our technology and expertise to support clinicians and the patients and families they serve.   As genomic technologies improve, we gain new tools that …

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From Lynch Syndrome Diagnosis to Advocacy: A Patient and Genetic Counselor Reconnect

  • August 19, 2024
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The Importance of TCLR in Mismatch Repair Variant Classification: A Genetic Counselor’s Perspective

  • July 31, 2024
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Expanding Your High-Risk Breast Program: Best Practices for Growth and Impact

  • July 17, 2024
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TCLR: Revisiting an Innovative Method for Mismatch Repair Variant Classification

  • July 3, 2024
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The Power of Progress: Philip's NF1 Clinical Trial Experience
  • Meagan Farmer
  • May 22, 2024

We had the opportunity to connect with Renie and Philip Moss ahead of Neurofibromatosis Awareness Month. Philip has neurofibromatosis type 1 (NF1). It is associated with many features but most often causes growths called neurofibromas (usually benign) as well as characteristic skin and eye findings.1 Malignant or cancerous tumors are rare.1 You …

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Navigating NF1: The Moss Family’s Story of Resilience and Hope

  • May 16, 2024
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Transforming Fear into Action and Advocacy: Our Family’s Lynch Syndrome Story

  • March 22, 2024
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Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen

  • November 14, 2023
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Passing on a Legacy of Health: Ben Huebsch Shares His BRCA Story for Men’s Health Week

  • June 14, 2023

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