Research And Technical Services
Blood System Disease Gene Decoding
Hematological hereditary diseases are suitable for sequencing with whole exomes (most of the primary XXX, congenital XXX may be hereditary diseases, such patients can recommend full exome sequencing). On the one hand, the whole exome sequencing has a wide range of sequencing, and the entire exon region is detected, and new gene mutations or mutation sites are easily found. On the other hand, hereditary diseases are mostly caused by germline mutations, and the mutation rate is high (the mutation ratio is about 50% or 100%). The whole exome sequencing is generally about 200 times deep, and the detection of germline mutations is completely complete. Can meet clinical needs. For hereditary diseases, we can also combine family analysis to help identify the source of the mutant gene.
From the perspective of molecular biology to assist in disease diagnosis, leukemia typing, etc., through large-scale genetic mutation screening, help identify disease-causing genes and provide targets for digital PCR monitoring of MRD.
The second-generation sequencing report of the Beckham Beacon is detailed and of high quality, and gives advice on whether the detected disease genes are suitable for long-term dynamic monitoring of digital PCR.
Hematological tumors are complex lesions caused by a multi-stage, multi-gene variation accumulation, and blood-related disease gene mutations or fusion directly lead to the occurrence of blood tumors. Minimal residual disease (MRD) refers to the state of residual leukemia cells in the body after complete remission of leukemia-induced chemotherapy (or after bone marrow transplantation). Current flow cytometry and fluorescent PCR methods are the main methods for monitoring MRD. Among them, flow cytometry recognizes leukemia cells from the cell level by detecting cell surface antigen molecules, but the specificity of detection is not strong, and human factors are large; fluorescence quantitative PCR can be used to monitor fusion genes, and there is insufficient sensitivity and amplification. Efficiency effects lead to problems such as quantitative inaccuracy. Digital PCR technology is very suitable for blood clinical MRD monitoring by taking advantage of its high sensitivity, high precision, high tolerance and absolute quantification.
ASUS Beacon pioneered the application of digital PCR to the field of hematology; 300+ digital PCR-detectable sites have been developed, which have been validated with positive and negative samples, successfully establishing a complete self-owned position. The point library; the Shuo Beckon second generation sequencing report gives a monitoring level of positive gene mutations using digital PCR tracking.
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