Ambry Genetics

Join Ashley Marsh, PhD, for a mini presentation of Poster P098, "Characterization of RPS20-related colorectal cancer predisposition: A case series from a multigene panel testing cohort" on March 20 at noon at #ACMG2025. #colorectalcancer #genetictesting

We're excited to connect with you at ACMG in Los Angeles this week! Join us in booth #501 at 5 PM today to meet with our experts across: ✅ Sales ✅ Gene Team ✅ Variant Team ✅ Market Access ✅ RNA ✅ EducateNext ✅ Exome Reveal ...and more! Whether you have questions or just want to chat, we’d love to meet you. Stop by or use the link below to schedule time with us ⬇️ https://hubs.ly/Q03cDYfy0

Did you know that splicing variants are more common than gross deletions and duplications? Yet, traditional DNA sequencing alone often misses these functional effects. With ExomeReveal™, we go beyond DNA to analyze RNA, uncovering critical splicing disruptions like exon skipping, intron retention, and alternative splice site usage. These insights are essential for accurate variant classification and improved patient outcomes. RNA analysis isn’t just a nice-to-have—it’s becoming essential. Are you incorporating RNA into your diagnostic workflow yet? Explore the benefits of functional insights into splicing variants with ExomeReveal: https://hubs.ly/Q03bV36T0 Meet Ambry Experts at ACMG: https://hubs.ly/Q03bV5rN0

Join us for a webinar on Thursday, March 20, at 11 am PT. https://hubs.ly/Q03ccg-F0

Evidence-based variant classification is evolving, and ACMG and AMP guidelines now recognize RNA analysis as strong or moderate evidence for variant interpretation—especially for detecting aberrant splicing. With ExomeReveal™, we bridge the gap between research and clinical diagnostics, seamlessly integrating RNA analysis into exome sequencing for more accurate variant classification. Discover how ExomeReveal aligns with clinical guidelines to improve diagnostic confidence: https://hubs.ly/Q03bVcyw0 Meet Ambry Experts at ACMG: https://hubs.ly/Q03bVksz0

By integrating RNA analysis with exome sequencing, ExomeReveal™ provides functional insights that enhance the diagnostic yield. This approach reduces the rate of VUS and increases overall diagnostic accuracy—leading to more confident answers for patients and families. More clarity. Fewer VUS. Better outcomes. That’s the power of RNA analysis in clinical diagnostics. How often do you encounter a case where RNA data could make a difference? Talk to one of our experts about ExomeReveal at ACMG. You can find us in booth 501 or schedule time with our experts: https://hubs.ly/Q03bV2GF0

"Be the woman who fixes another woman's crown without telling the world it was crooked." —Amy Morin This quote resonates with me because it speaks to women supporting women. Lifting each other is a powerful gift...and small gestures that are easy to make—a smile, encouraging nod, sponsorship, or shoulder to vent on—can make a huge difference. Don't underestimate the power of positive self-talk and if you don't have external mentors and advocates, seek them out in your place of work, your home and in external organizations designed to champion women like the Healthcare Businesswomen's Association. With the popularity of Wicked this year, there is another quote that I love: "You've always had the power, my dear, you just had to learn it for yourself." There's no need to wait for the affirmation of others. We have the power to be who we want to be, use our voices and be uniquely ourselves in the world. When we not only learn it but embrace it, we will see the magic that can happen! This can be hard to do, which is why mentorship is so important. Who were the voices that encouraged you? And who can you encourage this month to learn to fly? —Carol Wells Two Connect

Ambry Genetics is a proud sponsor of the 2025 ACMG Annual Meeting. Don't miss our informative posters and presentations! We invite you to visit us at booth 501 to learn more about Ambry's #ExomeTesting and #PatientforLife. Meet Ambry Experts at ACMG: https://hubs.ly/Q03b-GpL0

Ambry Genetics is a proud sponsor of the 2025 NCoBC Annual Meeting. Visit us at booth 404-405 to learn more about how Ambry is is helping breast centers identify more high-risk patients who need additional screening and preventive care with The Ambry CARE Program®. See how #hereditarycancer testing with Ambry can help identify more cases of hereditary cancer predisposition and fewer VUS with paired #RNA and #DNA testing. #genetictesting #breastcancer #NCoBC2025

At Ambry, we know that non-geneticist champions are critical in the genomics revolution! We're diving into a recent EJHG publication on the importance of these dedicated leaders in bridging the gap between traditional genetics and proactive, personalized patient care at scale. Swipe through to learn more, and tag a champion who is making sure more patients benefit from genomic medicine.   #Genomics #PersonalizedMedicine #ProactiveCare #CARE