Product Description

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!