https://blog.ambrygen.com/list/category/Whole%20Exome%20Sequencing Find the latest Ambry Genetics news by category: Whole Exome Sequencing en https://blog.ambrygen.com/list/category/Whole%20Exome%20Sequencing https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/429/where-genomic-insights-meet-clinical-action Seth Berger discusses wins in genome and exome genetic testing and clinical insights for future advancements. Wed, 04 Mar 26 06:57:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/426/joeys-story-a-mothers-reflection-for-rare-disease-month A rare disease mother shares her son's story of TBC1D24 disorder, a condition so rare that most families don’t hear its name until it becomes their world. Wed, 25 Feb 26 06:03:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/425/navigating-the-unknown-a-story-of-resilience-hope-and-advocacy-in-rare-disease A rare disease mother talks about Cornelia de Lange Syndrome (CdLS), a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and limb abnormalities. Wed, 18 Feb 26 06:04:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/402/finding-new-hope-the-whole-child-model-and-the-role-of-genetic-testing Dr. Suzanne Goh discusses the Cortica Care model for autism, the importance of genetic testing for giving a diagnosis to guide care. Wed, 12 Nov 25 06:00:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/391/finding-new-hope-dr-gohs-journey-from-camp-counselor-to-doctor A three part blog series on the Cortica Care model for autism and whole-body health. Tue, 21 Oct 25 07:55:00 -0700 Ambry Genetics Ambry Blog Whole Exome Sequencing 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 Whole Exome Sequencing 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 Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/371/why-consider-an-exome-first-testing-workflow Evaluating rare disease and neurodevelopmental disorders focuses on chromosomal microarray (CMA) or exome sequencing. We explore the benefits of these testing methods and why exome-first testing is supported by the latest evidence. Tue, 04 Feb 25 06:18:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing 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 Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/352/a-journey-through-the-undiagnosed-disease-program-an-interview-with-ellen-macnamara-ms-cgc Patients with a rare disease and going through a diagnostic odyssey wait for years without answers. Ellen Macnamara, ScM, CGC, explains how these cases journey through the NIH Undiagnosed Diseases Network to find the answers they are searching for. Tue, 11 Jun 24 06:53:00 -0700 Ambry Genetics Ambry Blog Whole Exome Sequencing 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 Whole Exome Sequencing 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 Whole Exome Sequencing 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 Whole Exome Sequencing 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 Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/327/a-genetic-counselors-experience-with-proactive-reanalysis-through-patient-for-life-an-interview-with-kelly-minks-ms-cgc Meagan Farmer interviews Kelly Minks, MS, CGC, a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, who routinely orders exome testing for children with developmental disorders and epilepsy. Fri, 08 Dec 23 10:37:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/326/addressing-equity-in-exome-sequencing-proactive-reanalysis-through-the-ambry-patient-for-life-program-helps-to-reduce-racial-ethnic-and-ancestral-disparities Emerging evidence shows that exome sequencing outcomes can see similar racial and ethnic disparities as other genetic tests. Therefore, exome reanalysis represents a step to potentially reduce such disparities by updating and correcting reports over time. Tue, 05 Dec 23 08:13:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/patient/post/324/peace-of-mind-michelle-majewski-trusts-the-patient-for-life-program-to-share-answers-for-her-son-owen Michelle Majewski juggles a career as a sales account executive, husband, and son Owen, who has extra medical needs, without a clear diagnosis. The search for answers used to keep Michelle up at night, before ExomeNext. Tue, 14 Nov 23 06:27:00 -0800 Ambry Genetics Patient Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/315/gene-of-the-month-kcnh5 How whole exome sequencing helped 2-year-old Emma receive a diagnosis for epileptic encephalopathy. Tue, 18 Jul 23 02:40:00 -0700 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/patient/post/310/morgan-turpin-and-son-shayne-find-connection-with-dravet-syndrome-families Morgan Turpin, MB(ASCP), CGMBS, explains the benefits of exome testing in her son's life for epilepsy and Dravet syndrome. Thu, 08 Jun 23 09:12:00 -0700 Ambry Genetics Patient Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/309/meet-the-gene-team-jennifer-huang-phd-presents-the-gene-of-the-month-ptpn4 For Ambry's third installment of Meet the Gene Team, we would like to introduce Jennifer Huang, PhD, Senior Clinical Scientist at Ambry Genetics. She talks about the Gene of the Month, PTPN4. Thu, 18 May 23 06:13:00 -0700 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/304/meet-the-gene-team-bess-wayburn-phd-cgc-presents-the-gene-of-the-month-sptbn1 Meet the Gene team highlights one member of the Ambry team each month and they then introduce a newly categorized gene and explain how the knowledge affects patients. Thu, 02 Mar 23 01:08:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/281/when-moments-matter-exomenext-rapid-finds-answers When Moments Matter, ExomeNext-Rapid Finds Answers Tue, 25 Feb 20 15:13:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/267/finding-answers-through-quality-exome-testing Finding Answers Through Quality Exome Testing Wed, 19 Sep 18 08:09:00 -0700 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/258/coming-of-age-whole-exome-sequencing Whole exome sequencing (WES) is an efficient way to identify genetic variants in all of an individual's genes. It does this by sequencing the functionally relevant regions of approximately 20,000 genes of the human genome. Mon, 25 Jun 18 08:14:00 -0700 Ambry Genetics Ambry Blog Whole Exome Sequencing https://blog.ambrygen.com/ambry/post/236/finding-answers-to-neurological-disorders-with-clinical-exome-sequencing Working with leading scientists and clinicians, Ambry has been able to help identify the genetic causes of many mysterious disorders.   We are excited to share with you the novel gene-diseases associations... Wed, 13 Dec 17 17:22:00 -0800 Ambry Genetics Ambry Blog Whole Exome Sequencing