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Articles Tagged: VUS
May 2, 2024
Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting
The Patient for Life Program helps provide accurate, up-to-date and accessible genetic testing options.
Genetic Testing Accuracy
Tag
VUS
Whole Exome Sequencing
April 29, 2024
Addressing Disparities in Genetic Testing: Strategies for Improving Variant Classification Accuracy in Underrepresented Populations
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
April 2, 2024
Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing
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
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
March 5, 2024
Greater than the Sum of its Parts: Gene-Disease Validity and Breast Cancer
Jennifer Herrera-Mullar discusses the correlation between breast-cancer associated genes and gene-disease validity
Genetic Testing
Hereditary Cancer
Variant of Unknown Significance
VUS
February 29, 2024
10 Ways Genetic Laboratories Can Support the Rare Disease Community
A top-ten list of ways laboratories can contribute to progress in identifying and treating rare disease for the more than 300 million people suffering from…
Advocacy Group
Novel Genes
Patient Advocate
VUS
Whole Exome Sequencing
