https://blog.ambrygen.com/list/category/Genetic%20Testing%20Accuracy Find the latest Ambry Genetics news by category: Genetic Testing Accuracy en https://blog.ambrygen.com/list/category/Genetic%20Testing%20Accuracy https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/424/making-waves-with-maves Discover how a BRCA2 variant reclassification, thanks in part to new MAVEs data and the Ambry Classifi® Program, unlocked potentially life-saving options for a 2x breast cancer survivor. Wed, 11 Mar 26 07:48:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/376/building-trust-in-digital-screening-validating-cares-hereditary-cancer-risk-assessment Rob Pilarski shares validation results for Ambry's CARE Program® (CARE), recently published in the Journal of the National Comprehensive Cancer Network. Thu, 26 Jun 25 07:17:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/372/from-odyssey-to-answers-how-progeny-helps-improve-rare-disease-care For Rare Disease Day, genetic counselor Liam Riddle explores genetic testing solutions. Fri, 28 Feb 25 05:56:00 -0800 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/373/three-benefits-of-ordering-exome-testing-as-trios Several studies have shown that running an exome “trio” with both biological parents increases the diagnostic yield and decreases the rates of variants of uncertain findings. Wed, 19 Feb 25 06:02:00 -0800 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/366/how-the-ambry-patient-for-lifetm-program-minimizes-the-need-for-provider-initiated-exome-reanalysis-requests One of the unique benefits of exome testing is the ability to return to the data from the initial analysis and reevaluate it for new, clinically relevant findings. This blog explains when to request reanalysis. Fri, 15 Nov 24 09:24:00 -0800 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/363/striking-the-perfect-balance-in-designing-hereditary-cancer-tests-the-ambry-approach Ambry's balanced approach to designing hereditary cancer tests ensures our panels remain relevant and impactful, helping clinicians manage hereditary cancer risk with confidence. Thu, 31 Oct 24 08:40:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/362/the-evolution-of-hereditary-cancer-testing-why-pan-cancer-panels-are-the-future-of-genetic-risk-assessment Pan-cancer panels offer more comprehensive diagnoses, personalized risk assessments, and targeted prevention and treatment strategies. Thu, 17 Oct 24 08:18:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/358/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. Thu, 10 Oct 24 08:02:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/357/the-importance-of-tclr-in-mismatch-repair-variant-classification-a-genetic-counselors-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. Wed, 31 Jul 24 05:23:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/355/tclr-revisiting-an-innovative-method-for-mismatch-repair-variant-classification Jessie Gryzbowski describes Ambry's novel method to accurately classify alterations in mismatch repair (MMR) genes​ ​by incorporating a tumor characteristic likelihood ratio (TCLR) into the variant assessment framework Wed, 03 Jul 24 06:57:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/353/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 Tue, 02 Jul 24 07:37:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/347/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. Thu, 02 May 24 06:12:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/346/advancing-equity-trihealths-experience-leveraging-care-to-standardize-cancer-risk-assessment Chelsea Menke, MS, CGC, discusses addressing health inequalities at TriHealth gynecology clinic with the Ambry CARE Program. Tue, 30 Apr 24 06:45:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/345/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 promote more accurate results. Mon, 29 Apr 24 06:34:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/342/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 time to diagnose patients with rare disorders. ES is best performed in the setting of a parental trio. Tue, 02 Apr 24 03:30:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/344/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 or presentation versus another. Thu, 28 Mar 24 03:45:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/340/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 neurological disorders, including reclassifying VUS. Tue, 19 Mar 24 03:17:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/332/ambry-collaborations-with-genematcher-help-further-disease-gene-discovery-and-improve-diagnostic-rates Meghan Towne discusses the partnership of diagnostic laboratories with GeneMatcher to contribute to gene-disease discovery. Tue, 30 Jan 24 03:51:00 -0800 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/328/the-path-to-clinical-relevance-what-a-study-on-rad51c-reveals-about-resolving-vus Marcy Richardson, PhD discusses variant interpretation, VUS, and recategorizing missense genes with an example from Hu et al's recent publication on RAD51C. Tue, 19 Dec 23 08:22:00 -0800 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/251/genetic-testing-at-home-or-from-the-doctor-s-office-same-difference Most DTCs do their testing with an assay called a SNP array. Wed, 28 Mar 18 14:15:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/250/false-positive-results-released-by-direct-to-consumer-genetic-tests-highlight-the-importance-of-clinical-confirmation-testing-for-appropriate-patient-care DTC Thu, 22 Mar 18 16:51:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/197/how-to-build-a-smarter-panel Ambry's smart approach to gene classification allows us to deliver reports with less ambiguity and more definitive results Fri, 30 Jun 17 15:43:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/188/how-are-direct-to-consumer-and-medical-grade-genetic-tests-different If you are considering genetic testing, it is helpful to understand differences between DTC and clinical testing Thu, 18 May 17 10:41:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy https://blog.ambrygen.com/ambry/post/17/new-research-confirms-sanger-sequencing-is-critical-for-accurate-genetic-testing Ambry's latest research shows that it is necessary to utilize Sanger Confirmation with Next Generation Sequencing in order to achieve the best testing accuracy. Tue, 11 Oct 16 09:30:00 -0700 Ambry Genetics Ambry Blog Genetic Testing Accuracy