Ambry Genetics

By leveraging Ambry’s large-scale testing database, our new study in Familial Cancer evaluated the largest cohort of APC I1307K homozygotes to date (n=74, compared to prior series of just 4). While homozygotes demonstrated a trend toward increased colorectal cancer odds compared to wildtype (OR: 2.48), the risk appeared far more modest than MSH6-associated Lynch syndrome. Read the open-access manuscript here: hubs.ly/Q04DsMbs0

A "one-size-fits-all" approach to variant interpretation can inadvertently widen health disparities. Our latest study found that cancer risks in CDKN2A heterozygotes differs across racial and ethnic groups, which can impact the clinical evidence leveraged for variant classification. Read more about how factoring race and ethnicity into variant assessment workflows can prevent misclassification of pathogenic variants in underrepresented populations. #HereditaryCancer #GeneChat #GeneticTesting #VariantAssessment #HealthEquity hubs.ly/Q04CH2V00

GenomeReveal enables the addition of RNA testing for eligible variants into genome sequence analysis, improving the ability to classify variants that are predicted to impact the splicing process. The integration of RNA sequencing to Ambry’s genome sequencing test enhances diagnostic precision and expands the ability to uncover critical insights for rare disease patients and their families. Learn more: hubs.ly/Q04BM9gS0

Join us for a webinar with Ambry's TJ Slavin, M. D., Chief Medical Officer. Ambry is setting a new bar for clinical whole genome sequencing by delivering unprecedented clarity, maximizing diagnostic yield, and driving equitable care across diverse patient populations. In this session, you'll discover how Ambry helps clinicians get the most out of every genome test. Register now: hubs.ly/Q04Bkc0f0

Today is #VariantScientistsAppreciationDay and we want to take this time to thank our incredible variant scientists for their relentless commitment to scientific excellence and patient care. Please join us in celebrating these experts whose work transforms complex data into clear answers.

What is the true power of a pangenome reference for clinical care? More answers for ALL patients. Most genomic testing relies on a single linear reference genome, GenomeNext™️ leverages a pangenome reference, delivering improved test accuracy, comprehensive genomic analysis, and more equitable answers for every family[1]. [1] Hickey G, Monlong J, Ebler J, et al. Pangenome graph construction from genome alignments with Minigraph-Cactus. Nat Biotechnol. 2024;42(4):663-673. doi: 10.1038/s41587-023-01793-w.

Ambry Genetics is a proud sponsor of the #SDBP2026 annual meeting. Attend our poster presentation, "Dual Diagnoses from Exome Sequencing in Patients with Trisomy 21," on Saturday, Oct 24, 2026 6:00pm – 7:15pm. Visit our booth to learn how our tests can help you and your patients find clearer answers sooner – because every day without a diagnosis matters.

A diagnosis can be the beginning of a lifelong journey. Our commitment to patient support extends to our whole genome sequencing with Patient for Life™️. Proactive, continuous reanalysis of genetic data done automatically without provider requests. - New answers, not just reclassifications – When new gene–disease associations are discovered, we proactively review all past cases so even a previous “negative” can become a new diagnosis. - Amended reports, automatically – We continuously search in the background and update reports when new information emerges, so patients get answers without providers needing to request them. - Post-test genetic counseling – Expert guidance to help you understand your results and any updates along the way. Experience our commitment to lifelong support: hubs.ly/Q04B3y120 #PatientForLife #WholeGenome #PatientSupport # #FamilySupport

From research on MAVEs to secondary findings to deep intronic variants, Day 1 at #ASHG26 sparked incredible conversations at our posters.  Thank you to everyone who stopped by to connect with our team! If you missed any of today’s presentations, you can explore all our posters here: hubs.ly/Q04C1Vyh0

Join us for a live webinar on 10/29 at 11 AM PDT to learn how clinician-advocacy collaborations drive improved patient outcomes while fostering meaningful professional growth, learning, and career enrichment. Register now: hubs.ly/Q04BM3Jm0 *This live webinar is eligible for CE credit. A recorded version will be available for CE credit on our website.

Explore how whole exome and genome sequencing help families end the diagnostic odyssey in a new white paper: hubs.ly/Q04B2XGq0

Whole Genome Sequencing provides answers where other tests cannot. In this case study, see how WGS plus RNA helped end the diagnostic odyssey for a patient with Sanfilippo Syndrome. hubs.ly/Q04zrxGq0

For Breast Cancer Awareness Month, Jewel Wasson, MS, CGC, joins the Gene Scene to discuss pathogenic variants in BRCA2, BRCA2-related cancer predisposition, and BRCA2-related Fanconi anemia. #GeneScene #GeneChat #GeneticTesting hubs.ly/Q04zhz-t0

Whole Genome Testing is now available from Ambry. Read the press release: hubs.ly/Q04zFhLR0

Learn more: hubs.ly/Q04zhzkg0

COMING SOON The Next Generation of Clinical Genome Testing Built for more answers, more access, and more support. October 2026

October 2026.

Coming soon.

Join us for a webinar on Wednesday, October 7. Elizabeth Jordan, MMSc, CGC, will explore the evolving landscape of cardiovascular genetics in diverse populations, with a focus on how diverse representation shapes discovery, interpretation, and clinical care. Register now: hubs.ly/Q04zmTcQ0