Happy Pride Month from Ambry! Everyone shines a unique light into the rainbow of humanity. You are beautiful, and we celebrate you, just as you are! #pridemonth #LGBTQIA #Pride2026

In a recent study, researchers at Ambry found that targeted RNA analysis helped clarify suspected splice-altering variants in neurogenetic disorders, reclassifying 79% of the variants studied and contributing to a genetic diagnosis for 53% of patients. The findings suggest RNA testing can be a practical complement to DNA-based testing for many neurologic genes, especially when standard sequencing leaves splice-related findings unresolved. hubs.ly/Q04kPXQC0 #RNA #Neurogenetics #GeneticTesting #VariantInterpretation #PrecisionMedicine

Why do GCs trust Ambry for genetic testing? Cassidy Janis, MS, CGC, says, “Their scientific leadership and exceptional customer service… They continually search for new data on variants, and they proactively keep me informed when there are new evidence-backed insights that can meaningfully impact my patients’ care.” #MAVES #Classifi #genetictesting #BRCA Read her patient’s story: hubs.ly/Q04kHnc90

A recent study, published in Genetics in Medicine Open, showcases how targeted RNA analysis using Ambry’s ExomeReveal® workflow can resolve uncertain findings and improve diagnostic clarity. #exome #RNA #raredisease #genetictesting Dive deeper: hubs.ly/Q04kHdHR0

Nina Buccafuri, MS, CGC, joins us in the Gene Scene to explore MSH6 and its associations with Lynch syndrome, CMMR-D, and hereditary cancer. Dive deeper. #GeneScene #GeneChat #LynchSyndrome #GeneticTesting hubs.ly/Q04kHH3W0

Combining large-scale BRCA2 multiplex assays of variant effect may improve how BRCA2 variants are classified, improving resolution of variants of uncertain significance and providing clinicians and patients with a clearer clinical picture. The study shows that integrating data across multiple functional assays can increase confidence and rescue excluded variants relative to using single-study models. hubs.ly/Q04kwsSb0 #BRCA2 #Genetics #VariantInterpretation #HereditaryCancer #PrecisionMedicine #MAVE

On National Cancer Survivors Day, we honor cancer survivors. Your experiences inspire us to continue working to understand human disease and provide answers to patients through hereditary cancer testing. Your stories motivate us every day. We stand with you! #GeneticTesting #CancerSurvivors #NationalCancerSurvivorsDay

For some individuals and families, genetic testing can provide important insights that help guide care, identify associated health risks, and connect them with valuable resources. We applaud this collaborative effort to advance awareness of the role genetics can play in supporting informed, evidence-based autism care. Read the statement: hubs.ly/Q04kjxTt0

Rare disease families seeking answers may feel like they are walking a lonely path, but rare does not mean you are alone. Ambry is dedicated to finding more answers for patients on a diagnostic odyssey. hubs.ly/Q04k2Pr20

Join us for a webinar on Wednesday, June 3, at 10 am PDT. Marissa Russell, MS, LGC, and Gregory Nogle will explore how ordering practices impact insurance coverage. Understand the ripple effect of ordering decisions on coverage, cost, and timely care, and get real-world guidance on minimizing administrative hurdles during the genetic testing process. #GeneChat #CEUs #genetictesting #billing hubs.ly/Q04jPmcH0

In a special Gene Scene Spotlight, Amanda Jacquart, MS, LCGC, covers MLH3. This gene is not on the ACMG Secondary Findings List, however Ambry is dedicated to the search for new, evidence-backed insights that can meaningfully impact patient care. Our latest findings include additional evidence for MLH3, which has resulted in an upgraded gene-disease validity (GDV) for autosomal recessive polyposis and colorectal cancer predisposition. hubs.ly/Q04jJKFS0

Genetic testing isn’t a one-time assessment—our understanding of DNA evolves as science advances. Ambry’s Patient for Life™ program keeps your patients’ results up to date by automatically reanalyzing eligible tests and notifying you of important changes. No retesting needed. Learn more at hubs.ly/Q04hT0GH0 #PatientforLife #Genetics #Exome #RareDisease #VariantReclassification #AmbryGenetics

Moriah Melhado, MSPH, LCGC, explores Wilson disease associated with variants in the ATP7B gene. #GeneScene #GeneChat #exome #genetictesting hubs.ly/Q04hTsj60

ICYMI: Ambry was first to offer clinical concurrent RNA and DNA testing in 2019 and in 2024 we added the power of RNA to exome testing. Ambry knows there are diagnostic and clinical benefits of RNA evidence. This study acts as a proof of concept that RNA sequencing can be integrated with rare‑disease workflows and demonstrates its feasibility and informativeness when paired with exome sequencing. Dive deeper into the power of RNA: hubs.ly/Q04htcwc0 #RNA #raredisease #exome #AmbryKnowsGenes

Why are rare diseases so hard to diagnose and how is genetic testing changing that? Hear from Brad Power, Genomic Science Liaison Director, Rare Disease at Ambry Genetics, as we break it down and explore testing capabilities for patients still searching for answers on Doctor Radio Show on SiriusXM, Channel 110, May 20 at 6 PM ET/3 PM PT. Listen on the SiriusXM app or online at hubs.ly/Q04hh1850

Our latest hereditary cancer menu enhancements are now available!  Ambry is dedicated to the search for new, evidence-backed insights that can meaningfully impact patient care. Our latest findings include additional evidence for MLH3, which has resulted in an upgraded gene-disease validity (GDV) for autosomal recessive polyposis and colorectal cancer predisposition. This upgraded GDV–along with existing medical management guidelines–is why we’ve enhanced CancerNext®, CancerNext–Expanded®, and ColoNext® to include MLH3 in the base panels.  hubs.ly/Q04h4SSf0

Haley Streff, MS, CGC, explores ventricular arrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT) and calcium release deficiency syndrome (CRDS), associated with variants in the RYR2 gene. #GeneScene #GeneChat #genetictesting #Cardio hubs.ly/Q04h4MLJ0

Join us for a webinar on Thursday, May 21, at 11 am PDT with Allison Wong, MS, CGC, and Setareh Zandihaghighi, MS, CGC. They will explore the efficacy of implementing multiple non-traditional service delivery models in community hospital-based cancer genetic clinics and the importance of equitable identification of those at increased risk for cancer. Register today: hubs.ly/Q04gznzB0 #genetictesting #GeneScene #CEUs #healthequity

What is the impact of concurrent DNA and RNA sequencing? RNAinsight®, paired DNA/RNA testing, generates novel functional evidence that helps close data gaps and leads to a preferential improvement in accuracy among non-White populations. Dive deeper: hubs.ly/Q04gpnff0 #RNA #DNA #genetictesting #healthequity

While it is clear that de novo variants cause many rare genetic disorders, their detection currently requires full trio sequencing. Learn how duoNovo uses long-read sequencing to improve access to the most accurate testing for more patients by requiring only one biological parent. #genetictesting #raredisease  hubs.ly/Q04gcT_j0