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