Products
Whole Exome Sequencing Detection Kit (RTS)
Cat. No.:
S0784-S
Spec:
60 Tests/Kit
Product description
Parameters
Background
Exons are the protein-coding regions of DNA, accounting for approximately 1% of the human genome. Despite this, exons encompass most functional variants associated with individual phenotypes and lead to about 85% of disease-causing genetic mutations in humans. The term "exome" refers to all of the exonic regions of the human genome. Whole-exome sequencing (WES), also known as targeted exome capture, allows for selective sequencing of coding regions to identify novel genes linked to rare and common disorders. Compared to whole-genome sequencing (WGS) and small customized panel sequencing, WES is more cost-effective and efficient, making it advantageous for studies and clinical applications in hematological tumor molecular biology. As a result, WES is now widely used in clinical and diagnostic practices.
Detection Content
Utilizing NGS technology, this product targets highly conserved protein-coding regions from the CCDS database while expanding the human core exome region to cover over 99% of protein-coding genes. Based on the latest released database, probe combinations can target human protein-coding regions of 36.8 Mb. Despite its small design region, this approach conforms to multiple indicator requirements.
Advantages
Full coverage: 397,061 probes, with comprehensive combinations of exomes targeting 36.8 Mb of human protein-coding genes; the most complete region sets, covering > 99% of protein-coding regions in RefSeq, CCDS and GENCODE databases.
High design efficiency: A design area of only 41.2 Mb can cover a 36.8 Mb target area. A small design region can reduce the sequencing cost.
High capture efficiency: capture efficiency > 90%.
High sensitivity: accurate and stable detection of 1% mutation frequency.
Kit strengths are flexible with Illumina and ThermoFisher sequencing platforms.
Specimen Requirements
1、Bone marrow/Peripheral blood
2–3 mL bone marrow or peripheral blood (bone marrow preferred), with > 5% blast cells or abnormal cells, and WBC count > 5*109/L; increase sample volume (> 5 mL) when insufficient;
2、DNA
The total DNA amount should be > 1 μg, OD260/280 should be within 1.8–2.0, with a concentration > 30 ng/μL, and the agarose gel electrophoresis band should be > 20 kb;
3、Cell lines
WBC count > 15*106; total amount of extractable DNA > 1 μg.
Target Population
With a whole exome sequencing, this kit can be used for comprehensive auxiliary diagnosis, prognosis evaluation, and screening of therapeutic targets and MRD monitoring indicators for patients with hematological tumors.;Additionally, this product can sequence and analyze the entire exome to identify pathogenic genes associated with single-gene deficiencies, screen for pathogenic and susceptibility genes linked to complex genetic diseases, thus assisting clinicians in diagnosis and providing more scientific guidance for patients and their families. Furthermore, disease screening and risk analysis services can be made available to high-risk groups with a family history.
Gene Coverage
Coverage > 99% of the target regions in CCDS, RefSeq, and GENCODE databases, including:
CCDS: 343,880 exons, with 33.2 Mb, all included in RefSeq; 0.007 Mb, not included in GENCODE v28;
RefSeq: all cds, 136,2515 exons, 36 Mb;
GENCODE: based on v28, 555,401 exons, 34.8 Mb, unique to RefSeq 0.6 Mb;
Ordering Information
| Cat. No. | Product | Strength |
| S0784-S |
Exome Sequencing Detection Kit
|
60 Tests/Kit |
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