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
test can 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 0.5 X 0.5 cm

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

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