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Individual WES

At present, there are more than 20,000 human genes have been discovered, with a total of more than 180,000 exons. Genes are composed of exons and introns, where exons are DNA regions directly involved in protein coding, accounting for about 1-2% of the entire human genome, and about 85% of human genetic variation is concentrated in the exon region. Therefore, WES test can provide comprehensive and powerful information for the diagnosis of diseases.

wes

Features of WES

Cover 180,000+ exon regions of 20,000+ human genes, comprehensively interpret all single-gene disorders with clear pathogenic genes in the OMIM database, and can search for new pathogenic genes with trio-WES method.

Clinical Applications of WES

  • Auxiliary diagnosis: search for the cause of suspected single-gene genetic disease and assist clinical diagnosis;

  • Fertility guidance: provide fertility guidance for couples who have family history or have given birth to children;

  • Disease risk assessment: conduct risk assessment for high-risk groups with family history and provide early intervention programs to reduce the risk of disease;

  • Scientific research needs: discover new diseasecausing genes in the family study of rare diseases.

Spedification of WES

Sample typesPeripheral blood / Abortion tissue / fetal villi / Amniotic fluid / Cord blood
TAT20 working days


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