Whole Exome sequencing (WES) without compromises: EXOME 50MB covers not only the coding regions of all 20,000+ human genes, but also any regulatory sequence in the untraslated regions (5'UTR and 3'UTR) plus several intronic nucleotides from the exons/intron border. EXOME 50MB TRIO is also available for trio testing (patient plus father and mother).

Additional info and technical specifications

Whole exome sequencing (WES) consists in the sequencing of all human genes, which are about 20,000. EXOME 50MB is definitevely the most complete solution on the market for WES, because for every gene it does not only include the coding region, but also any upstream and downstream regulatory sequence in the 5'UTR and 3'UTR. In addition, differently from any other WES solution, EXOME 50MB includes several intronic positions at the exone/intron boundary, hence expanding the range of detection of deep intronic splice mutations. When doing in trios (or any other combination of relatives such as, for instance, two affected siblings), WES not reach a diagnostic success rate of 30%, but also enables the detection of disease-causing mutations in as yet unknown genes (7%).

Technical specifications

EXOME 50MB is run by default at amazing levels of coverage, achieving in average a 10x coverage for more than 96% of targeted bases. The analysis includes the sequencing of all exons, exon/intron boundaries and UTRs of any human gene. Variants are called from ALL genes and are filtered with first and second level bioinformatic analysis plus manual scanning based on the clinical information of the patient. Sending thorough clinical info is recommended to ensure a high level of granularity in the interpretation. Incidental findings (ACMG 2013 list) can also be reported upon request.

Accepted samples for EXOME 50MB includes: already purified DNA (better if eluted in water), EDTA-blood, Breda Genetics buccal swabs, Breda Genetics filter cards, saliva.

Breda Genetics filter cards and swabs webg

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 info@bredagenetics.com: we'll send them right away!

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