Articles from Ambry Genetics

Ambry Genetics, now a wholly owned subsidiary of Tempus AI, Inc. (NASDAQ: TEM), and a leader in clinical genomic testing, today announced the publication of a study in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG). The study reveals the potentially transformative impact of Ambry Genetics’ Patient for Life™ program, which systematically reanalyzes data from the company’s database of exome test results. By reclassifying genetic variants based on newly discovered gene-disease associations and emerging evidence supporting variant pathogenicity, the program may offer renewed hope to patients and families facing undiagnosed rare diseases. Over the study period, 5% of initially negative or uninformative case results that received proactive reanalysis led to a diagnosis.

Ambry Genetics, a leader in clinical genomic testing, today announced its contribution to a study published in Nature that significantly advances our understanding of BRCA2 gene variants. As the uptake of genetic testing continues to grow, the need for scalable interpretation of the vast number of variants detected has become critical. This study 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.

Ambry Genetics, a leader in clinical genetic and genomic testing, today announced enhancements to their portfolio of tests for the detection of genetic mutations associated with hereditary cancer. This new evidence-informed menu builds on the company’s 12-year history in hereditary cancer testing, to offer tests reflecting the latest scientific evidence and national consensus guidelines.

Ambry Genetics, a leader in clinical genomic testing and a subsidiary of REALM IDx, Inc., today announced the ExomeReveal™ test, a new multiomic exome sequencing test designed to improve rare disease detection compared with conventional DNA-based exome sequencing. The ExomeReveal test brings Ambry Genetics’ extensive experience in RNA analysis, honed through its hereditary cancer testing portfolio, to its ExomeNext® exome sequencing test, to improve diagnostic yield for rare diseases.

Ambry Genetics (Ambry), a leader in clinical diagnostic testing, and Tempus, a leader in artificial intelligence and precision medicine, announced today that they have entered into a strategic collaboration to offer best-in-class, comprehensive, germline and somatic testing services.

Ambry Genetics, a prominent leader in clinical genomic testing and a subsidiary of REALM IDx, Inc., unveiled at the American Society of Human Genetics (ASHG) annual meeting results of a study published in JAMA Oncology that assessed the cumulative impact of paired DNA and RNA testing on detecting disease-causing germline genetic variants and resolution of variants of uncertain significance (VUS).

LifeStrands Genomics and Ambry Genetics have joined forces to provide clinical genetic testing services in Singapore. Together, they have been chosen to support the Clinical Implementation Pilots (CIPs) for Phase II of Singapore’s National Precision Medicine (NPM) programme through an open tender commissioned by Precision Health Research, Singapore (PRECISE) – the central entity implementing NPM.

Unilabs, a leading diagnostic services provider, and Ambry Genetics (Ambry), a leader in clinical diagnostic testing and a subsidiary of REALM IDx, have entered an exclusive partnership to enhance high-quality genetic testing services for government-sponsored and biopharma companies conducting international clinical trials and research.

Ambry Genetics (Ambry), a leader in clinical diagnostic testing and a subsidiary of REALM IDx, launched a new reproductive health program that is driven by its CARE ProgramTM (Comprehensive Assessment Risk and Education), a digital platform that enhances the patient and provider experience through easier access to genetic education, testing, reporting and counseling. This end-to-end program improves family planning and prenatal care by expanding access to carrier screening and NIPT, also known as non-invasive prenatal screening (NIPS), and by helping patients make informed decisions. NIPT is for screening, not diagnosis.

Ambry Genetics, a leader in clinical diagnostic testing and a subsidiary of REALM IDx, Inc., announced today the findings of a study that showed paired RNA and DNA genetic testing, conducted at the same time, detected elusive pathogenic variants in 1 of every 950 patients that were missed by DNA testing alone. The findings, published in npj Genomic Medicine, highlight the importance of combining RNA and DNA analysis in hereditary cancer testing to give clinicians and their patients the most accurate and comprehensive genetic data needed to inform patient care and achieve the best outcomes.