Articles Tagged: Genetic Testing
October 10, 2024
Pioneering New Research to Support Rare Disease Patients and Families
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
October 2, 2024
2024 Hereditary Cancer Testing Menu Update
Explanation of changes to Ambry’s Hereditary Cancer Testing Menu.
Genetic Testing
August 19, 2024
From Lynch Syndrome Diagnosis to Advocacy: A Patient and Genetic Counselor Reconnect
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
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
July 17, 2024
Expanding Your High-Risk Breast Program: Best Practices for Growth and Impact
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
July 2, 2024
The Evolving Landscape of Gene-Disease Validity Curation and Its Impact on Clinical Utility
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