We've updated our Privacy Policy to make it clearer how we use your personal data.

We use cookies to provide you with a better experience. You can read our Cookie Policy here.


An Integrated Multiomic Approach for the Diagnosis of Metabolic Diseases

An Integrated Multiomic Approach as an Excellent Tool for the Diagnosis of Metabolic Diseases: Our First 3720 Patients

Inherited metabolic disorders (IMDs) are a vast and complex group of rare genetic diseases presenting throughout a patient’s life span. As as a whole, IMDs represent a common group of diseases with a prevalence of 1 in 784-2,555. Most importantly, some IMDs are treatable.

By optimizing the diagnositic approach of IMDs through a multiomic, one-test solution that integrates genetic and biochemical testing, nearly 4,000 patients from 62 countries with suspected metabolic diseases could be tested. With this approach a high diagnostic yield of 37% was achieved, which is comparable to Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS). 

Furthermore, up to 43% of the patients could benefit from medical treatments.

Download this study to discover a panel that:

  • Allows the efficient diagnosis of more than 180 metabolic diseases
  • Obtained a diagnostic yield comparable or even higher than the average yield after WES and WGS
  • Confirmed previous findings on specific established pathogenic variants