The way down to the right diagnosis
Metabolomics are the new approach to track metabolic defects in severe undiagnosed disorders and may serve as the perfect first step to the right diagnosis. The term metabolome indicates the collection of all metabolites in a biological cell, tissue, organ or organism, which are the end products of cellular processes. So analysing the metabolome means studying systematically all the unique chemical fingerprints that specific cellular processes leave behind by separating and identifying their small-molecule metabolite profiles. For comparison, the metabolome represents in biochemistry what exome and genome represents in genetics. The metabolome is therefore the perfect starting point before doing exome sequencing, especially when a metabolic disorder is suspected on the basis of evolutive clinical signs or because of inexplicable abnormalities in the biochemical profiles. Once the results of the metabolome are obtained, it is possible to narrow down the clinical interpretation of genes involved in the abnormal metabolic pathways.
Metabolome + Exome / Metabolome + Genome
Metabolome analysis and exome sequencing can now be performed in parallel by Breda Genetics. This new offer is called EXOBOLOME, and is available in different formats depending on the type of exome and the level of coverage. For the comprehensive screening of mutations falling in non-coding regions, we also offer the combination of metabolome with whole genome sequencing. The current mainstream offer is the following:
Metabolome + Clinical Exome Sequencing
Sequencing of 5,200 clinically relevant genes integrated with the analysis of 100,000 human metabolites to support Genetics with Biochemistry.
Metabolome + Whole Exome Sequencing
Metabolome analysis plus sequencing of all the 20,000 human genes for the screening of pathogenic mutations in the entire exome.
Metabolome + Whole Genome Sequencing
High-throughput sequencing without compromises in addition to metabolome analysis. All genes, introns and intergenic regions included.