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An Integrated Multiomic Approach as an Excellent Tool for the Diagnosis of Metabolic Diseases

Inherited metabolic disorders (IMD) constitute a vast, complex,
and important group of rare genetic diseases. IMDs can be described as genetic disorders that cause disruption of a metabolic pathway presenting throughout a patient’s life span. With currently over 1400 IMDs recognized, affecting up to 1 in 784 people, the past decade has seen revolutionary changes in the discovery, diagnosis and the treatment of IMDs.

CENTOGENE would like to introduce the MOx, which represents a growing portfolio of single-step multiomic solutions. With a complete clinical picture via multiomic data, the process and precision of treating rare diseases are being redefined.

Download this article to learn about a next-generation sequencing technology that:

  • Integrates genetic and biochemical testing
  • Can efficiently diagnose more than 180 metabolic diseases