Ambry Genetics

For three decades, we’ve been honored to support your genetic care and pedigree needs.

Come visit us at #NSGC booth 1169 for an exclusive sneak peek at the next generation of Progeny!

What is your favorite Progeny memory from over the years? Share your stories in the comments below!

#CheersTo30YearsofPedigrees

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