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!
Send product request
Other supplier products
 |
Genetic Testing for Hereditary Breast/Ovarian Cancer(BRCA1/2) | According to research reports, individuals with inherited cancer genes have a higher risk of cancer than ordinary people. About 7% of breast cancer... |
 |
Individualized Medication Guidance for Cancer (800 Genes) | This test detects 800 genes related to targeted therapy, chemotherapy and endocrine drug, hereditary tumor, immunotherapy-related information (MSI ... |
 |
Individualized Medication Guidance for Cancer (118 Genes) | This cancer genetic testdetects 136 genes, including 110 targeted drug-related genes and 27 chemotherapy drug-related genes, provides the correlati... |
 |
Individualized Medication Guidance for Breast Cancer | This test detects 348 genes, including HRR pathway genes. The content involves targeted breast cancer therapy, immunotherapy, chemotherapy and here... |
 |
CNV-seq Detection (Semiconductor Sequencing) | CNV-seq Detection (Semiconductor Sequencing) The detection kit, which is based on the BES 4000 platform, is used to perform low-depth whole-genome... |
Same products
 |
YGD03 Stainless steel electric operation table | Seller: Jiangsu Yigao Medical Equipment Technology Co., Ltd. | YGD03 Electric Operating TableProfessional Multi‑Purpose Surgical Table for Operating RoomsⅠ. Pro... |
 |
Prophy Brush(hard/soft) | Seller: Huanghua Promisee Dental Co.,Ltd | Prophy Brush(hard/soft) Product Description Prophy Brushis composed of a metal handle and a wor... |
 |
Micro Applicator(Ultrathin) | Seller: Huanghua Promisee Dental Co.,Ltd | Micro Applicator(Ultrathin) Product Description Micro applicator bulk pack supplieroffering 100... |
 |
Dental Retractor(M type) | Seller: Huanghua Promisee Dental Co.,Ltd | Dental Retractor(M type) Product Description ThisDental Retractor(M type)is M type design. In o... |
 |
Dental Dam Kit | Seller: Huanghua Promisee Dental Co.,Ltd | Dental Dam Kit Product Description The Dental Dam Kit, a type of disposable dental supplies, is... |
