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Case Study

Identifying a Clinically Relevant Intronic Variant With CentoXome®

Download Our Free Whole Exome Sequencing (WES) Case Study Today!

It takes approx. seven years to diagnose a patient with a rare disease. With CentoXome®, this doesn’t have to be the case.

In the attached case study, CentoXome, our enhanced Whole Exome Sequencing 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.

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How CentoXome Can Help You

CENTOGENE Diagnostics Whole Exome Sequencing Icon DNA Search

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

CENTOGENE Diagnostics Whole Exome Sequencing Icon Report

Increase diagnostic yield compared to conventional WES

 

CENTOGENE Icon Network

Leverage deeper insights to guide the best patient care possible, thanks of the CENTOGENE Biodatabank