Ambry Genetics launches whole genome sequencing test for rare diseases
Ambry Genetics, a wholly owned subsidiary of Tempus AI (NASDAQ: TEM), has launched GenomeNext and GenomeReveal, a whole genome sequencing solution aimed at improving diagnosis for patients with rare diseases.
The offering combines whole genome sequencing, RNA analysis, and ongoing reanalysis of patient data. GenomeNext uses a pangenome reference intended to better represent human genetic diversity and improve variant detection across diverse ancestral backgrounds. GenomeReveal adds integrated RNA analysis to help interpret certain DNA findings.
The solution includes Ambry's Patient for Life program, through which the laboratory proactively reanalyzes patient data as gene-disease knowledge evolves. According to the company, its laboratory-driven reanalysis has resulted in positive reclassifications in 5% of previously negative or uncertain cases, citing a 2025 study published in Genetics in Medicine.

"Families searching for the cause of a rare disease often spend years seeking a diagnosis," said Thomas Slavin Jr., M.D., Chief Medical Officer of Diagnostics at Tempus and Medical Geneticist. "GenomeNext allows a more comprehensive view of the genome leveraging additional RNA evidence and ongoing reanalysis so that we're giving patients the best opportunity to reach a diagnosis, while continuing to update them as the science evolves."
Dr. Wendy Chung, Chief of the Department of Pediatrics at Boston Children's Hospital and Mary Ellen Avery Professor of Pediatrics at Harvard Medical School, said the approach represents a direction toward "more comprehensive, equitable and lifelong care for patients."
Ambry Genetics has operated for 25 years as a clinical genomic testing company. The information in this article is based on a press release issued by Ambry Genetics.

