https://blog.ambrygen.com/list/category/VUS Find the latest Ambry Genetics news by category: VUS en https://blog.ambrygen.com/list/category/VUS https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/418/the-gene-scene-apob In this Gene Scene, Haley Streff, MS, CGC, covers the APOB gene and its association with familial hypercholesterolemia. Tue, 20 Jan 26 07:44:00 -0800 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/389/the-gene-scene-rps20 The Gene Scene covers RPS20 Tue, 02 Sep 25 06:52:00 -0700 Ambry Genetics Ambry Blog VUS 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 VUS 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 VUS 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 VUS 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 VUS 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 VUS 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 VUS 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 VUS 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 VUS https://blog.ambrygen.com/ambry/post/338/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 Tue, 05 Mar 24 03:00:00 -0800 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/335/10-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 more than 6,000 rare disease worldwide. Thu, 29 Feb 24 03:00:00 -0800 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/336/from-awareness-to-action-supporting-rare-disease-today-and-everyday For Rare Disease Day, a list of patient advocacy groups dedicated to raising awareness about rare diseases and the millions of individuals around the world affected by them. Mon, 26 Feb 24 03:00:00 -0800 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/337/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. Fri, 23 Feb 24 08:36:00 -0800 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/334/a-gcs-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. Wed, 21 Feb 24 03:53:00 -0800 Ambry Genetics Ambry Blog VUS 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 VUS 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 VUS https://blog.ambrygen.com/ambry/post/264/science-in-60-tumor-characteristics-provide-evidence-for-mismatch-repair-variant-pathogenicity Tumor Characteristics Provide Evidence for Mismatch Repair Variant Pathogenicity By Shuwei Li, Sr. Statistical Geneticist I Tue, 21 Aug 18 13:57:00 -0700 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/263/science-in-60-attacking-a-vus-from-multiple-angles Ambry’s commitment is to find answers and clarify whether a variant is disease causing. Fri, 10 Aug 18 15:30:00 -0700 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/192/improve-patient-care-by-reducing-ambiguity-in-gene-disease-relationships Ambry's latest research formalizes a methodology for determining if a gene-disease relationship is clinically valid, reducing ambiguity and improving test results. Wed, 07 Jun 17 14:20:00 -0700 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/172/dr-rachid-karam-discusses-variant-classification-at-2017-acmg-annual-meeting During the 2017 ACMG Annual Meeting, Rachid Karam, MD, PhD, discussed how understanding VUS results can help clinicians create medical management plans for their patients. Thu, 30 Mar 17 19:06:00 -0700 Ambry Genetics Ambry Blog VUS https://blog.ambrygen.com/ambry/post/163/rna-labs-how-they-impact-the-medical-world By having the ATG Lab at Ambry, it is possible to further refine VUS results and look beyond DNA in order to determine the benign or pathogenic status of splicing. Thu, 02 Mar 17 23:46:00 -0800 Ambry Genetics Ambry Blog VUS