Ambry Genetics

Ambry Genetics As a company built by scientists, genetic counselors and physicians, Ambry, a Tempus company, is your partner in genetics and genomics.

As a company built by scientists, genetic counselors and physicians, we are your partner in genetics and genomics.

Join us for a webinar on Wednesday, March 4, at 10 am PST. Overall cancer risk in an individual can vary widely due to a...
02/25/2026

Join us for a webinar on Wednesday, March 4, at 10 am PST. Overall cancer risk in an individual can vary widely due to a genetic and nongenetic factors. Dr. Tuya Pal discusses these factors and considerations around clinical intervention to either reduce cancer risk or initiate cancer surveillance.
https://hubs.ly/Q044sRfF0

“TBC1D24 disorder is so rare that it felt like we were the only ones living with it.”For JoeyLynn Nolan, finding a diagn...
02/25/2026

“TBC1D24 disorder is so rare that it felt like we were the only ones living with it.”
For JoeyLynn Nolan, finding a diagnosis didn’t just name her son’s condition, it opened the door to connection, understanding, and hope.
In her Rare Disease Month reflection, she shares how connecting with another family changed everything, and why answers matter for families navigating the unknown.
Read how diagnosis, community, and Baby Joey’s legacy continue to make an impact: https://hubs.ly/Q044sWsH0

As Ambry recognizes Rare Disease Day on February 28, explore how we contribute to our commitment not to stop until rare ...
02/24/2026

As Ambry recognizes Rare Disease Day on February 28, explore how we contribute to our commitment not to stop until rare disease is understood.
https://hubs.ly/Q044h1Vs0

02/23/2026

How does Progeny help genetic counselor Liam Riddle better serve patients with rare disease? Watch the video to find out!
Dive deeper: https://hubs.ly/Q044fX3t0

Ambry is proud to be recognized in the Epidemiology and Genomics Research Program (EGRP) Research Highlights for 2025.Pu...
02/20/2026

Ambry is proud to be recognized in the Epidemiology and Genomics Research Program (EGRP) Research Highlights for 2025.
Published in Nature, Functional evaluation and clinical classification of BRCA2 variants was designed to leverage CRISPR/cas-9 gene editing to aid in the functional characterization of nearly 7,000 BRCA2 variants, helping to resolve variants of uncertain significance (VUS) and guide better clinical management.
In Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants the ClinGen HBOP Variant Curation Expert Panel refined ACMG/AMP guidelines for PALB2, identifying those codes that need to be modified or excluded, and were able to achieve strong concordance with ClinVar classifications. These specifications will support more consistent, clinically meaningful variant interpretation to inform medical management.
Explore the full list here: https://hubs.ly/Q043RNxp0.

The journey with a genetic condition extends far beyond the initial diagnosis. Our Patient for Life™ program ensures you...
02/19/2026

The journey with a genetic condition extends far beyond the initial diagnosis. Our Patient for Life™ program ensures you have a partner for every step that follows.
We are committed to providing lifelong support through:
🌊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.

“When you learn that your child has a syndrome, it’s natural to be scared—but I want other parents to know it will be ok...
02/18/2026

“When you learn that your child has a syndrome, it’s natural to be scared—but I want other parents to know it will be okay.”
After her son Emmett’s diagnosis, Brittaney Carpenter turned fear into advocacy using answers, education, and community to help other families navigate rare disease with confidence.
Read her Rare Disease Day message and learn why diagnosis and advocacy matter: https://hubs.ly/Q043B7fS0

In this week's Gene Scene, Brooke Sample, MS, CGC, covers the RPE65 gene, which regulates an enzyme that is critical for...
02/17/2026

In this week's Gene Scene, Brooke Sample, MS, CGC, covers the RPE65 gene, which regulates an enzyme that is critical for the "visual cycle"—the process of regenerating light-sensitive pigments in the eye. Mutations in this gene cause RPE65-related retinopathies that vary in severity and age of onset. Dive deeper: https://hubs.ly/Q043mfYm0

Join us for a webinar on Thursday, February 19, at 11 am PST. Abby Turnwald, MS, CGC, and Sarah Jurgensmeyer, MS, CGC, w...
02/16/2026

Join us for a webinar on Thursday, February 19, at 11 am PST. Abby Turnwald, MS, CGC, and Sarah Jurgensmeyer, MS, CGC, will explain how genetics clinicians can support siblings of individuals with rare diseases in their practice. https://hubs.ly/Q043dyqT0

Ambry Genetics is a proud sponsor of the 2026 ACMG Annual Meeting. We invite you to visit our booth to learn more about ...
02/13/2026

Ambry Genetics is a proud sponsor of the 2026 ACMG Annual Meeting. We invite you to visit our booth to learn more about Ambry's testing and Patient for Life™ and meet our experts in booth 517 to discuss where genomic insights meet clinical action. https://hubs.ly/Q0430WCC0

Today we celebrate International Day of Women and Girls in Science, a time to highlight female contributions in the fiel...
02/11/2026

Today we celebrate International Day of Women and Girls in Science, a time to highlight female contributions in the fields of science and technology. Ambry is proud to be lead by strong women in leadership positions and to be recognized as a Comparably Best Company for Women.

NEW WHITE PAPER:Ambry is proud to collaborate with the University of California, Irvine (UCI) and the Genomics Research ...
02/11/2026

NEW WHITE PAPER:
Ambry is proud to collaborate with the University of California, Irvine (UCI) and the Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) Consortium to support the Pediatric Mendelian Genomics Research Center (PMGRC) program. Together, we’re advancing the understanding of the biological mechanisms underlying rare diseases and supporting patient diagnosis with the latest genomic technologies.

Explore real case examples demonstrating how patients benefitted from long‑read whole genome sequencing and learn more about this collaborative effort:
https://hubs.ly/Q042tL2J0

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