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Application Note

Identifying an Intronic Positive Variant

Rectangle Image
Application Note

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
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