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Articles Tagged: Genetic Testing
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 28, 2024
APC: New Takes on an Old Gene
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
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 23, 2024
Variant Interpretation in Real Time: Sometimes it Takes a Village
Genetic counselors explain how a CDH1 variant was classified as likely pathogenic from VUS status.
Breast Cancer
Genetic Testing
RNA
Variant of Unknown Significance
VUS
February 21, 2024
A GC’s Perspective on Lab Expertise: Getting Answers After Years of Uncertainty
Genetic counselor Kaitilin Stokes discusses hereditary cancer testing and resolving VUS in CDKN2! and APC genex.
Genetic Counselors
Genetic Testing
Hereditary Cancer
VUS
