WES Case Study
Identifying an Intronic Positive Variant With NEW CentoXome®
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It takes approx. seven years to diagnose a patient with a rare disease. With NEW CentoXome®, this doesn’t have to be the case.
In the attached case study, NEW CentoXome, our enhanced Whole Exome Sequencing (WES) testing solution, established a definite diagnosis – despite the complexity of the case and failed analysis at other labs. By detecting a known pathogenic, clinically relevant intronic variant, CENTOGENE was able to provide a 14-year-old female and her family with answers.
Access enhanced coverage across the entire exome, full mitochondrial genome, and nearly 100% coverage of all known clinically relevant genes and variants throughout the genome
Increase diagnostic yield by up to 20% compared to conventional WES
Leverage deeper insights to guide the best patient care possible, thanks of the CENTOGENE Biodatabank