Our technology is helping to drive breakthroughs in genetic disease testing by facilitating identification of disease-causing genetic variants. We recognize the significant impact of genetic and rare diseases on families worldwide, and we’re developing solutions to facilitate early detection and intervention. A genetic diagnosis can help improve outcomes, promote enduring good health, and raise awareness about the importance of genetics in health care.
Genetic disorders and congenital anomalies are primary contributors of hospitalization and mortality in infants.1 At least 39% of rare diseases have an identifiable genetic etiology.2 For adults, 25% of sudden cardiac arrest is due to an inherited genetic condition.3,4 Our genetic disease testing technologies can help you identify causative variants and chromosomal aberrations, and may enable early discovery of disease.
2–6% of the population worldwide is affected by a rare disease.6,7 80% of these rare diseases have a genetic component,8 but many patients struggle for years to receive a diagnosis. We are committed to ending these diagnostic odysseys with genetic disease testing solutions that can increase the likelihood of a diagnosis.Learn More
Sudden cardiac arrest is one of the leading causes of nontraumatic mortality in the US. Next-generation sequencing (NGS) gene panels can provide comprehensive coverage of genes with known associations to inherited heart conditions.Learn More
Genomic research has uncovered genes linked to Alzheimer’s disease, multiple sclerosis, Huntington’s disease, and Parkinson’s disease. Today, neurogenetics and neurogenomics are significant contributors to how we understand the biology of neurodegeneration.Learn More
Whole-genome sequencing for rare genetic disease can lead to a diagnosis in days, potentially helping parents avoid months or years of inconclusive tests. Listen to Dr. Vandana Shashi of Duke University and Kimberly LeBlanc of the Undiagnosed Diseases Network discuss how sequencing can shorten the diagnostic odyssey for patients with rare disease.Listen Now
After seven years and dozens of specialists, genetic tests, and MRIs, Sophia and her family were exhausted and left without an answer. Two years later, whole-genome sequencing enabled Sophia’s medical team to identify a mutation in the WDR45 gene and diagnose her with Beta-propeller protein-associated neurodegeneration (BPAN).Watch Video
Whole-genome sequencing (WGS) is the most comprehensive test for detecting multiple variant types in a single assay.10‑17 Historically, the size and complexity of the human genome made WGS challenging. Recent innovations in the field make WGS more accessible, with shorter, automation-friendly library prep and powerful interpretation tools.Read More
Our sample-to-report WGS workflow is built on years of genomic innovation for high-accuracy, high-confidence variant detection.
TruSight Software Suite brings the collective power of genetic analysis tools into a single interface for rapid variant interpretation in genetic and rare disease.
This prep features our latest technology innovations and offers flexibility and sensitivity for human whole-genome sequencing, delivering libraries in < 2 hours.