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!
在线联系供应商
Other supplier products
Folic Acid Utilization Ability Genetic Detection | Folic acid is mainly involved in nucleic acid, protein synthesis and DNA methylation in the human body, and is an essential micronutrient for the h... | |
Mycobacteria Nucleic Acid Detection | For the purpose of distinguishing between MTBand NTM, the real-time fluorescent PCR and TaqMan probe technologies are utilized. This kit is the onl... | |
CapitalBio® CalSlide-III Calibration Slide | CalSlideTM is a fluorescence calibration slideproduct made of NanobriteTM inorganic nano-fluorescent material on a scanner-scannable universal size... | |
Forensic Platform | Forensic Platform Forensic DNA identification is a scientific and technological weapon for investigation and litigation. The inspection includes D... | |
Neuromuscular Disorders | Neuromuscular Disorders List Neuromuscular disorders include a wide-range of diseases affecting the peripheral nervous system, which consists of a... |
Same products
UM-A7 Clear Polyster Study Model | 卖方: Tangshan UMG Medical Instrument Co.,Ltd. | UM-A7 Clear Polyster Study Model This tooth model UM-A7 Clear polyster teeth study modeluses tra... | |
UM-A6 Standard Tooth Model (Soft Gum 32 Teeth) | 卖方: Tangshan UMG Medical Instrument Co.,Ltd. | UM-A6 Standard Tooth Model (Soft Gum 32 Teeth) Our company's product UM-A6 Standard tooth model(... | |
UM-A4 Standard Tooth Model (Soft Gum 28 Teeth) | 卖方: Tangshan UMG Medical Instrument Co.,Ltd. | UM-A4 Standard Tooth Model (Soft Gum 28 Teeth) Our dental model UM-A4 Standard model of teeth wi... | |
UM-A3 Standard Teeth Model (nissin) | 卖方: Tangshan UMG Medical Instrument Co.,Ltd. | UM-A3 Standard Teeth Model (nissin) Our UM-A3 Standard teeth model(nissin) is a dental model wit... | |
UM-A3F F Tooth Model | 卖方: Tangshan UMG Medical Instrument Co.,Ltd. | UM-A3F F Tooth Model Our dental model UM-A3F fake teeth model, which is made of frasaco articula... |