WES without compromises
EXOME 90MB really represents the best option for whole exome sequencing (WES) without compromises: EXOME 90MB covers not only the coding regions of all 20,000 human genes, but also all regulatory sequences located upstream and downstream in the untraslated regions (5'UTR and 3'UTR). EXOME 90MB TRIO is a derived application specifically designed for the analysis of patient and parents in parallel.
Additional info and technical specifications
Whole exome sequencing (WES) consists in the sequencing of all human genes, which are about 20,000. EXOME 90MB is definitevely the most complete solution on the market for WES, because any gene gets sequenced not only in its entire coding region, but also in its regulatory tracts upstream (5'-UTR) and downstream (3'-UTR).
EXOME 90MB is made based on whole exome sequencing (WES) including the sequencing of the UTRs. Coverage: 100x. Genes included: all 20,000 human genes and the mitochondrial DNA. Variants are called from all genes and are filtered by first, second and third level bioinformatics plus manual scanning, based on the patient's clinical information. Sending thorough clinical info is recommended to ensure a high level of granularity in the interpretation. Incidental findings may be reported upon patient's consent..
Accepted samples: DNA (in water or TE), EDTA-blood, Breda Genetics buccal swabs, Breda Genetics filter cards, saliva. Please contact us in advance if you would like to send any other kind of sample.
Need buccal swabs or filter cards?
We'll send you a bunch for free!
Our high-yield swabs and filter cards are made up of a special, extra-capturingmaterial which ensures the collection of plenty of cells. As such, they are perfect not only for cystic fibrosis screening but also for any other test likeexome and genome sequencing! Ask us a bunch at firstname.lastname@example.org: we'll send them right away!