Identifying an Intronic Positive Variant
It can take approximately 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, an enhanced Whole Exome Sequencing (WES) testing solution, established a definite diagnosis of neurofibromatosis type 1 – 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 with answers and hope surrounding this severe disease.
Download your Whole Exome Sequencing (WES) case study to learn how NEW CentoXome can help you:
- Access enhanced coverage across the entire exome, full mitochondrial genome, and known medically-associated genes and variants
- Increase diagnostic yield by up to 20% compared to conventional WES
- Leverage deeper insights to guide the best patient care possible, thanks of CENTOGENE’s unique Bio/Databank