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The Ambry Blog

Explore clinical deep dives, patient stories, and a look behind the scenes of our scientific research and technologies. Filter by topic to find the insights and stories that matter to you.

Latest Articles

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April 29, 2024

Addressing Disparities in Genetic Testing: Strategies for Improving Variant Classification Accuracy in Underrepresented Populations

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Carrie Horton, Sr. Clinical Research Specialist – Oncology
There are many socio-political factors that contribute to disparities in genetic testing. This blog explores several ways genetic testing laboratories can reduce VUS rates and…
Genetic Testing
Genetic Testing Accuracy
RNA
VUS
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April 2, 2024

Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing

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Meghan Towne, Genetic Counselor, Reporting- Clinical Genomics
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…
Genetic Testing
Genetic Testing Accuracy
Tag
VUS
Whole Exome Sequencing
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March 28, 2024

APC: New Takes on an Old Gene

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Marcy Richardson, Variant Assessment Scientist, Ambry Genetics
Pathogenic variants in the APC gene cause conditions such as FAP and GAPPS. Marcy Richardson breaks down genotype-phenotype correlations and how they cause one condition…
Colorectal Cancer
Genetic Testing
Genetic Testing Accuracy
Hereditary Cancer
Variant of Unknown Significance
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March 20, 2024

Empowering Patient-Centric Breast Care: How The Ambry CARE Program™ Provides Evolving, Personalized Risk Assessment

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Sarah Campian, Genetic Specialist I
Discusses the average risk of breast cancer versus a patient’s personal risk, factors that contribute and how The Ambry CARE Program addresses these risks for…
Breast Cancer
Cancer Risk
Reduce Risks
Risk Factors
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March 19, 2024

The Benefits of RNA Testing for Neurological Disorders

Targeted RNA analysis using whole blood can provide useful information for variant classification in neurological disorders. RNA evidence improves the accuracy of genetic diagnosis of…
Gene Mutation
Genetic Testing
Genetic Testing Accuracy
RNA
VUS
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March 7, 2024

Celebrating Women’s History Month

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Tom Schoenherr, Chief Executive Officer
CEO Tom Schoenherr discusses his female inspirations for International Women’s Day.
Companies for Women
Women in Business
Women in STEM