Tempus AI unit Ambry Genetics launches GenomeNext whole-genome sequencing test for rare diseases
TEM•Ambry Genetics, a Tempus AI subsidiary, launched GenomeNext, a whole-genome sequencing test for rare-disease diagnosis. The test uses a pangenome reference, while GenomeReveal adds RNA analysis; Ambry said its Patient for Life program has produced positive reclassifications in 5% of prior negative or uncertain cases.
1. Test features
Ambry Genetics launched GenomeNext, a whole-genome sequencing test aimed at improving rare-disease diagnosis. It uses a pangenome reference to improve variant detection across diverse ancestral backgrounds, and GenomeReveal adds integrated RNA analysis to support interpretation of certain DNA findings.
2. Reanalysis program
Ambry’s Patient for Life program includes laboratory-initiated reanalysis. The company cited positive reclassifications in 5% of prior negative or uncertain cases.
