The way down to the right diagnosis

Researcher looking at a green molecule on a white background

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

Ideal to juxtapose metabolomics with the sequencing of all 6,000 clinically known genes of the genome. Very reliable in navigating through various differential diagnoses with the tranquility of a truly diagnostic coverage.


Metabolome + Whole Exome Sequencing

The most inclusive solution to combine metabolome and high resolution sequencing of all 20,000 human genes plus the mitochondrial DNA. The perfect choice if you feel lost somewhere in the clinics of a genetically unknown disorder.


Metabolome + Whole Exome Sequencing with UTRs

Metabolome analysis plus all the 20,000 human genes including their 5’-UTR and 3’-UTR for the screening or mutations in coding exons and regultory regions. The most complete whole exome solution.


Metabolome + Whole Genome Sequencing

An analysis without compromises to couple whole genome sequencing (3 GB) with detailed metabolome results. Essential to screen for disease-associated mutations falling outside the coding regions.

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