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Probe set and kit for detecting whole exons of extended genetic diseases and application of probe set

A whole-exon, genetic disease technology, applied to the detection of extended genetic disease whole-exon probe set and its kit and application field, can solve the problems of missed detection of mitochondrial genetic diseases and lack of accuracy of genomic diseases, etc. , to achieve the effect of saving clinical time, increasing the positive rate, and cost-effective

Inactive Publication Date: 2019-11-26
北京凯昂医学诊断技术有限公司
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Problems solved by technology

However, whole exome sequencing has certain limitations in the detection of human genetic diseases: 1) The detection gene only includes the exon region of the whole genome, and there is a risk of missed detection for mitochondrial gene diseases; 2) The detection range is limited to the whole genome copy Genomic diseases caused by CNVs lack accuracy

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  • Probe set and kit for detecting whole exons of extended genetic diseases and application of probe set
  • Probe set and kit for detecting whole exons of extended genetic diseases and application of probe set
  • Probe set and kit for detecting whole exons of extended genetic diseases and application of probe set

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Embodiment Construction

[0030] The invention provides a comprehensive genetic disease detection scheme. On the basis of the whole exome detection of genetic diseases, mitochondrial probes and CNV probes are added, and the second-generation sequencing platform is used to complete more than 23,000 human genes at one time. Detection of all exons, genome-wide copy number abnormalities (CNVs) and mitochondrial loop genes. Through the extended all-exome detection for genetic disease diagnosis, the most comprehensive diagnosis can be realized, and the analysis of three types of genetic abnormalities can be completed at one time, and the positive rate of genetic disease detection can be improved.

[0031] Key points of the present invention:

[0032] 1. There are many kinds of test samples in the present invention, including blood, fresh tissue, FFPE samples and saliva, etc.;

[0033] 2. Add CNV probes to the standard all-external probe set;

[0034] The standard all-external probe set can detect 6161 kind...

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Abstract

The invention discloses a probe set for detecting whole exons of extended genetic diseases. The probe set for detecting the whole exons of the extended genetic diseases comprises a standard whole exonprobe set, a whole genome copy number variation probe, and a mitochondrial loop full-length probe, and the genetic diseases comprise 6161 genetic diseases; the standard whole exon probe set can detect the genetic diseases caused by whole exon mutation, the genetic diseases comprise nervous system diseases, metabolic system diseases, endocrine system diseases, digestive system diseases, skeletal system diseases, urinary system diseases, immune system diseases, cardiovascular system diseases, blood system diseases, integument system diseases, ophthalmic system diseases, ear system diseases, respiratory system diseases, and genital system diseases; and the density of the mitochondrial probe is 6X; test samples comprise blood, fresh tissue, FFPE samples, and saliva. The invention discloses using method and kit and application of the probe set for detecting the whole exons of the extended genetic diseases.

Description

technical field [0001] The invention relates to a probe set for detecting genetic diseases, a kit and application thereof, and belongs to the technical field of gene detection and diagnosis of genetic diseases, in particular to a probe set for detecting the whole exons of extended genetic diseases and Its kits and applications. Background technique [0002] In the past decade, high-throughput sequencing technology, also known as next-generation sequencing technology (Next generation Sequencing, NGS), has developed rapidly due to its advantages of high accuracy, high throughput, high sensitivity and low cost. NGS technology can sequence the entire genome at an unprecedented speed, and can obtain the sequencing of the entire genome in a short time at a low cost, opening up a new era of genomics and molecular biology. [0003] Whole exome sequencing of human genetic diseases is based on NGS technology, which can analyze all exon regions of more than 23,000 human genes at one t...

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11C12Q1/6869C40B50/06
CPCC12Q1/6883C12Q1/6869C40B50/06C12Q2531/113C12Q2525/191
Inventor 盛敏
Owner 北京凯昂医学诊断技术有限公司
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