Metabolic diseases are a complex field.
They comprise of a huge amount of diseases potentially affecting a wide range of systems in the human body. Moreover, symptoms may be extremely diverse and sometimes faint, making those diseases difficult to diagnose.
BARC laboratories offer a portfolio of tests to assess metabolic diseases from different origins in order to assist clinicians with specific patient-management.
Various techniques are used, including sequencing in molecular biology, since most of those diseases have a genetic origin.
This group of diseases is characterized by the accumulation of abnormal metabolites or normal metabolites in pathological quantities, such as:
- Amino acids
- Long-chain fatty acids
- Very long-chain fatty acids
- Organic acids
- Lysosomal enzymes
In addition, BARC has developed methods for studying the metabolome through the characterization of the intestinal microbiome.