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Clinical 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, whole exome sequencing genetic testcan provide comprehensive and powerful information for the diagnosis of diseases.

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 Category

Number of Diseases

Number of Genes

Nervous system

793

688

Genetic metabolic system

631

570

Genitourinary

102

97

Hereditary eye disease

359

299

Skeletal system

596

466

Respiratory diseases

42

57

Mental and behavioral disorders

128

128

Endocrine System

217

231

Skin system

253

212

Hearing disease

124

107

Digestive system

72

72

Blood immunity

426

425

Circulatory system

223

177

Tumor

142

185

Others

161

163

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 Types

Requirements

Whole blood [EDTA tube]

Adults ≥ 5mL, children ≥ 2mL

DNA

Concentration > 30ng/uL, total amount > 1ug, 40uL

Tissue

For more information about genome sequencing serviceand in vitro diagnostic solutions, please feel free to contact us!



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