Finally we can get Medical Genetics and biochemitry walking together hand in hand to hit the right diagnosis!
METABOLOME PLUS is the ultimate tool to understand the patient's specific metabolism to find crucial alterations. Metabolome analysis is for biochemistry what genome sequencing is for genetics. Through our METABOLOME PLUS analysis we are able to analyze more than 100,000 analytes to consequently adapt of exome/genome data interpretation.
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. The metabolome is a perfect fit when or before doing exome sequencing. Once the metabolome analysis has found the altered pathway in the patient, exome/genome sequencing data interpretation can be narrowed down the genes involved in that pathway.
METABOLOME PLUS is performed by doing liquid chromatography to separate metabolites (phase 1) and mass spectrometry to acquire signals typical of each molecule (phase 2). A urine sample is required (as little as 1 ml of urine is enough). The sample must travel very fast as it can decay very quickly: it can resist at room temperature for 24 hours or at +4°C for two days or longer in dry ice. *Launching price. Superfast/refrigerated shipping by express courier is included for any EU country (+190 € for extra-EU). The analysis is offered on a research basis only and is also available in parallel to exome or genome sequencing (EXOBOLOME). METABOLOME PLUS is done in collaboration with an outstanding partner lab and comes at a turnaround time of about 3 weeks.