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

Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting

Putting Patients First: The Ambry CARE Program®'s Commitment to Patient Experience
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Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting
  • Meghan Towne, MS, CGC, LCGC
  • May 2, 2024

Our understanding of genes and diseases is constantly evolving. At Ambry Genetics, we develop and continuously refine our testing services based on the ever-expanding body of scientific evidence. The process of assessing the relationship between a gene and a disease is called gene-disease validity (GDV) scoring and is fundamental to genetic testing. …

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Putting Patients First: The Ambry CARE Program®'s Commitment to Patient Experience

  • May 1, 2024
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Advancing Equity: TriHealth’s Experience Leveraging CARE to Standardize Cancer Risk Assessment

  • April 30, 2024
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Addressing Disparities in Genetic Testing: Strategies for Improving Variant Classification Accuracy in Underrepresented Populations

  • April 29, 2024
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Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing

  • April 2, 2024
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Navigating NF1: The Moss Family’s Story of Resilience and Hope
  • Meagan Farmer
  • May 16, 2024

Navigating life with a rare disease like neurofibromatosis type 1 (NF1) can be challenging for families. We had the opportunity to connect with Renie and Philip Moss ahead of NF Awareness Month, and they shared experiences and insights from their NF1 journey. Renie and Philip are a mother and son in Birmingham, Alabama. Renie recounted the initial …

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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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Morgan Turpin and Son Shayne Find Connection with Dravet Syndrome Families

  • June 8, 2023

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