22q11 microdeletion syndrome mutation detection kit

Through AccuCopy technology and multiple PCR primers combined with capillary electrophoresis, the 22q11 microdeletion syndrome detection kit has been developed to solve the problem of detection difficulties in the existing technology, and to achieve rapid and accurate detection, support early diagnosis and intervention, and improve the quality of life of children.

CN120249462APending Publication Date: 2025-07-04GENESKY DIAGNOSTICS SUZHOU
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Patent Information

Application Number
CN202510226195.X
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2025-02-27
Publication Date
2025-07-04

AI Technical Summary

Technical Problem

The existing detection methods cannot effectively and economically detect 22q11 microdeletion syndrome, resulting in difficulty in early diagnosis and intervention, affecting the quality of life of children and the accuracy of genetic counseling.

Method used

AccuCopy technology was used to develop a 22q11 microdeletion syndrome mutation detection kit, which contains multiple PCR primers and internal control DNA fragments for the 22q11 region, combined with capillary electrophoresis technology to achieve fast and accurate copy number variation detection.

Benefits of technology

A rapid and accurate detection of 22q11 microdeletion syndrome mutations has been achieved, supporting early diagnosis and intervention, improving the quality of life of children, reducing birth defects, and in line with the policy of eugenics and good parenting.

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Abstract

The invention discloses a 22q11 microdeletion syndrome mutation detection kit, which comprises: 1) 11 pairs of multiple PCR primers aiming at different 22q11 region target sites to be detected, one primer in each pair of primers being provided with a fluorescent label; 2) 5 pairs of multiple PCR primers of reference genes, wherein one primer in each pair of primers is provided with a fluorescent mark; and 3) aiming at different to-be-detected 22q11 region target sites and internal control DNA fragments of reference genes, the internal control DNA fragments are highly consistent with amplification products of the corresponding multiple PCR primers in the step 1) and the step 2), and the internal control DNA fragments are sequences obtained by deleting or inserting a small number of 1-50 basic groups into the sequences of the corresponding amplification products. The kit disclosed by the invention can be used for effectively detecting the mutation condition of the 22q11 microdeletion syndrome, and is rapid, accurate and efficient in detection, so that effective early diagnosis, early intervention and genetic counseling can be realized, and the life quality of child patients is improved.
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