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Clinical WES CapitalBio

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.

clinical wes

Features of Clinical WES

The Clinical WES test of CapitalBio Technology is based on the BES4000 semiconductor sequencing platform, uses target region capture and the NGS technology to detect all exonic regions and more than 1,000 pathogenic intron regions of nearly 4,000 genes that are clearly associated with genetic diseases, covering more than 4,200 diseases.

Disease CategoryNumber of DiseasesNumber of Genes
Nervous system793688
Genetic metabolic system631570
Hereditary eye disease359299
Skeletal system596466
Respiratory diseases4257
Mental and behavioral disorders128128
Endocrine System217231
Skin system253212
Hearing disease124107
Digestive system7272
Blood immunity426425
Circulatory system223177

Applications of Clinical WES

Auxiliary diagnosis: patients with suspected single-gene genetic disease.

Fertility guidance: couples who have family history or have given birth to sick children.

Risk assessment: high-risk groups with family history.

Advantages of Clinical WES

  • High accuracy: Average sequencing depth > 200X, 30X coverage of target area > 95%.

  • Fast: 20 working days to deliver report.

Specification of Clinical WES

Sample TypesRequirements
Whole blood [EDTA tube]Adults ≥ 5mL, children ≥ 2mL
DNAConcentration > 30ng/uL, total amount > 1ug, 40uL
Tissue0.5 X 0.5 cm

Contact with Capitalbio
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Building C, Block 88 Kechuang 6th Street, Yizhuang Biomedical Park, Beijing