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.
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Disease Category
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Number of Diseases
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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
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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
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Sample Types
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Requirements
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Whole blood [EDTA tube]
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Adults ≥ 5mL, children ≥ 2mL
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DNA
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Concentration > 30ng/uL, total amount > 1ug, 40uL
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Tissue
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0.5 X 0.5 cm
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For more information about genome sequencing service and in vitro diagnostic solutions, please feel free to contact us!
