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Identifying a Clinically Relevant Mitochondrial Variant
Application Note

Identifying a Clinically Relevant Mitochondrial Variant

Identifying a Clinically Relevant Mitochondrial Variant
Application Note

Identifying a Clinically Relevant Mitochondrial Variant

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

In this case study, NEW CentoXome, our enhanced whole exome sequencing (WES), established a definite diagnosis of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. Despite the complexity of the case and failed analysis at other labs, NEW CentoXome was able to detect a known pathogenic variant in the mitochondrial gene, MT-ND5. As a result, CENTOGENE was able to provide a twenty-year-old female and her family with answers and hope surrounding this severe disease.

Download your copy of this Whole Exome Sequencing case study to learn how NEW CentoXome can help you:

  • 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 to CENTOGENE’s unique Bio/Databank
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