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NEWS

Science, Stories & the Future of Genomics

For clinicians, patients, and the curious — insights on genomics, hereditary conditions, and the stories that remind us why this work matters.

Articles Tagged: Genetic Testing

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October 10, 2024

Pioneering New Research to Support Rare Disease Patients and Families

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Elizabeth Chao, Laboratory Director, Ambry Genetics
Dr. Elizabeth Chao explains how Ambry’s collaboration with PacBio to participate in the GREGoR Consortium to unlock the mysteries of the genome.
Clinical Research
Genetic Testing
Genetic Testing Accuracy
Next Generation Sequencing
Novel Genes
Scientific Research
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October 2, 2024

2024 Hereditary Cancer Testing Menu Update

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Meagan Farmer, MS, MBA, LCGC
Explanation of changes to Ambry’s Hereditary Cancer Testing Menu.
Genetic Testing
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August 19, 2024

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

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Jodi Tahsler, Content Writer
In honor of Patient Advocacy Day, Ambry connected with a genetic counselor and one of her former patients to find out how genetic testing made…
Colorectal Cancer
Genetic Testing
Lynch syndrome
Patient Advocate
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July 31, 2024

The Importance of TCLR in Mismatch Repair Variant Classification: A Genetic Counselor’s Perspective

Alyssa Valentine, MS, CGC, shares insights into a patient case where the incorporation of TCLR resulted in a major impact on MMR gene variant classification.
Gene Mutation
Genetic Testing
Genetic Testing Accuracy
VUS
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July 17, 2024

Expanding Your High-Risk Breast Program: Best Practices for Growth and Impact

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Adrianne Alexander, High-Risk Breast Cancer Nurse Navigator
Nurse Adrianne Alexander shares practical, engaging, and impactful best practices to expand a high-risk breast program.
BRCA1 & 2
Breast Cancer
Breast Cancer Awareness
Cancer Risk
Genetic Testing
OBGYN
Risk Factors
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July 2, 2024

The Evolving Landscape of Gene-Disease Validity Curation and Its Impact on Clinical Utility

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Jennifer Herrera-Mullar, Sr. Genetic Counselor, Cancer Reporting
Understanding the relationship between genes and diseases is crucial for improving patient care. Gene-Disease Validity (GDV) scoring techniques continue to evolve
Clinical Research
Genetic Testing
Genetic Testing Accuracy
Multigene Panel Testing
Next Generation Sequencing