WEXOME is based on the most
recent solutions of exome enrichment →
Whole Exome Sequencing (WES)
Still today, Whole Exome Sequencing (WES) represents the best compromise between the aim for a high diagnostic yield and analysis costs.
WES is a powerful application of Next Generation Sequencing (NGS) technology, that has revolutionized the diagnosis of rare disorders.
WES helps deciphering the entire coding sequence sequence of all human genes with reliability and velocity. Thanks to the sequencing of all 20,000 human genes at once, it is now possible to end the diagnostic odyssey of patients at unprecedented speed.
Several different enrichment kits for WES are commercially available on the market, each of them showing specific features, different number of genes covered and different reliability.
As we are constantly committed to find the most advantegous solutions in WES services for our customers, we have designed WEXOME, our precise and powerful WES service designed specifically for needs of high diagnostic yield and competitive pricing.
And yes! WEXOME comes with both SNV and CNV scanning included!
Our test
Tech Specs:
- 20,000 human genes covered
- 99.0% of variants reported in ClinVar database are covered
- 98.4% of targeted regions covered at 10x
Thanks to its enrichment kit, WEXOME provide:
- a higher number of targets covered with 20 or 30 reads compared to leading competitors.
- a higher library complexity than other kits resulting in a lower duplication rate.
- a higher level of coverage uniformity, that reduces the amount of sequencing required to achieve the desired coverage depth.
- Copy Number Variations (CNVs) analysis with multi-exonic resolution is included.
Higher numbers of targeted regions covered with 20 or 30 reads and a decrease of duplication rate allow WEXOME to be more powerful and precise than other WES analyses, as a more robust and less redundant amount of information will be generated in smaller sets of data. Finally, the inclusion of CNV scanning takes the diagnostic yield to another level!
WEXOME comes at a competitive price, to satisfy the needs of Providers with demanding budgets and an inescapable need of quality.
Your sample will be processed immediately upon arrival at our lab. After Sequencing and Bioinformatics, our Scientific Team will go through the genetic data extremely thoroughly. Finally, we’ll send you the Medical Report!
How it works
SIGN UP
Sign up with your details on our provider registration form.
Complete the WEXOME order for your patient(s)
We’ll immediately send you the filter card for sample collection.
Spot your patient's blood on our filter card
Follow these instruction to fill the card spots. If you prefer, we can also accept already purified DNA or whole-blood.
Request sample shipment by our courier
For three or more WEXOME orders at a time, we'll be glad to send ou courier for free sample collection and shipping!
That’s it!
Wait for the lab to analyze your sample by whole exome sequencing and send you the final Medical Report with the results.
Additional Services and Options
By leveraging our long-standing experience in whole exome sequencing, you can add several additional options* to WEXOME:
WEXOME: 890 €
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