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Glioma detection panel based on next-generation sequencing, detection kit and their application

A detection kit and glioma technology, applied in the field of biomedicine, can solve the problems of high input cost, low accuracy, poor patient prognosis, etc., and achieve the effect of comprehensive diagnosis and treatment services and cost reduction.

Pending Publication Date: 2019-08-16
GENECAST WUXI PRECISION MEDICAL DIGNOSTIC LAB
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  • Abstract
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AI Technical Summary

Problems solved by technology

[0006] (2) 454 sequencing technology: the read length is long, but the accuracy is low, the cost is high, and pyrosequencing technology, the time length accounts for
[0014] 2) High-grade gliomas (WHO grade III-IV) are poorly differentiated gliomas; these tumors are malignant tumors, and the prognosis of patients is poor
A lot of instruments and kits are equipped to complete a full set of detection, and each detection method requires corresponding professionals to operate, and the overall investment cost is very high

Method used

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  • Glioma detection panel based on next-generation sequencing, detection kit and their application
  • Glioma detection panel based on next-generation sequencing, detection kit and their application
  • Glioma detection panel based on next-generation sequencing, detection kit and their application

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Experimental program
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Effect test

Embodiment 1

[0069] (1) Interruption library construction and capture steps of FFPE samples

[0070] 1. Preparation of glioma panel validation samples

[0071] Standards: IDH1, IDH2, TERT, ABL1, ALK, BRAF, EGFR, FGFR2, FLT3, GNA11, GNA11, GNAQ, JAK2, KIT, KRAS, MEK1, MET, NOTCH, NRAS, PDGFRA, PIK3CA, NTRK were selected in this experiment A total of 18 standard products with different mutation frequencies were configured for glioma-related genes. After interruption, library construction, capture and enrichment, they were used for computer and bioinformatics analysis, from three aspects: copy number variation, rearrangement, and point mutation. performance analysis.

[0072] Clinical samples: 37 pairs of glioma samples verified by other methods were selected for database construction, capture and enrichment, and bioinformatics analysis. Performance analysis was performed from three aspects: copy number variation, rearrangement, and point mutation.

[0073] 2. Tissue DNA extraction and inte...

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Abstract

The invention discloses a glioma detection panel based on next-generation sequencing, a detection kit and their application, wherein the glioma detection panel comprises glioma-related genes and loci;the glioma-related genes and loci include SNP (single-nucleotide polymorphism) locus on No. 1 chromosome, SNP locus on No. 19 chromosome, MGMT, ATRX, H3F3A, ACVR1, CTC, HIST1H3B, MLH1, PLCG1, SMO, AKT1, CTNNB1, HIST1H3C, MSH2, PMS2, TERT, ATRX, DAXX, HRAS, MSH6, PPM1D, TP53, BCOR, DDX3X, IDH1, MYC, PTCH1 and the like. The glioma detection panel herein is suitable for providing a patient with precise comprehensive diagnostic and treatment services just through next-generation sequencing.

Description

technical field [0001] The present invention relates to the field of biomedical technology, in particular to a detection panel for glioma based on next-generation sequencing, a detection kit and an application thereof. Background technique [0002] High-Throughput Sequencing technology (High-Throughput Sequencing) is a revolutionary change to the traditional generation sequencing. It connects the DNA with adapters to prepare a sequencing library, and performs extension reactions on tens of thousands of clones in the library to detect the corresponding DNA. signal, and finally get the sequence information. Hundreds of thousands to millions of DNA molecules can be sequenced at a time, so it is called Next Generation Sequencing (NGS). At the same time, high-throughput sequencing makes it possible to analyze the transcriptome and genome of a species in detail, so it is also called deep sequencing. [0003] The NGS detection method has high throughput and can detect a large num...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886
CPCC12Q1/6886C12Q2600/156C12Q2600/154C12Q2600/136C12Q2600/112C12Q2600/118
Inventor 宋小凤洪媛媛闫慧婷郭现超陈敏浚于佳宁李彩琴何骥陈维之
Owner GENECAST WUXI PRECISION MEDICAL DIGNOSTIC LAB
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