At the American Academy of Pediatrics (AAP) National Conference & Exhibition in Denver, Colorado, GeneDxwill introduce its proprietary dataset, Infinity™. Infinity™ is the largest rare disease dataset and is considered a powerful resource for accelerating diagnoses and drug discovery. It serves as the foundation for the company's ExomeDx and GenomeDx tests, which are trusted in rare disease diagnosis.

For over 25 years, experts have relied on Infinity due to its scale, depth, and diversity, which has increased the likelihood of diagnosing rare diseases. GeneDx is the leading clinical exome and genome provider in the U.S., with a high diagnostic yield and fewer inconclusive results. With the recent AAP guidance recommending exome and genome sequencing as a first-tier test for children with developmental delays or intellectual disabilities, pediatricians can now use Infinity to help find answers for their patients.

The Infinity dataset includes data from more than 2.5 million genomic patients, nearly 1 million exomes and genomes, over 7 million phenotypic data points, more than 50% non-European representation, and over 60% of tests augmented by parent samples.

According to Katherine Stueland, President and CEO of GeneDx, each test strengthens Infinity's impact, leading to sharper insights and a faster path to breakthrough discoveries. Dr. Heidi Rehm, a professor at Massachusetts General Hospital and the Broad Institute of MIT and Harvard, highlighted the dataset's value, particularly its diverse representation, which is crucial for accurate variant interpretation and reducing disparities in genetic medicine. At the AAP conference, GeneDx will engage with pediatricians and advocacy leaders to discuss how Infinity can support equitable access to genomic testing and improve diagnostic yield. They will also be promoting their "Diagnosis is Power" campaign. GeneDx is the global leader in rare disease diagnosis, aiming to make genomics the starting point for health, not the last resort.