JOINT DETECTION METHOD FOR LYMPHANGIOLEIO-MYOMATOSIS AND USE THEREOF
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United States of America Patent
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Issued Date -
May 18, 2023
app pub date -
Dec 27, 2019
filing date -
Dec 27, 2019
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Abstract
A joint detection method for lymphangioleio-myomatosis and a use thereof is provided. The method includes the following steps: performing Target Sequencing based Hybridization capture: a Panel is designed for the whole coding regions of TSC1 and TSC2 genes highly related to LAM and mutation genes closely related to solid tumors to construct a gDNA library, and sequencing is performed on a machine after a hybrid capture; sorting: the above sequencing data are processed and analyzed by bioinformatics; performing a supplementary detection by CMA if the TSC1 and TSC2 genes are detected to be negative; performing a supplementary detection by MLPA if a one-hit locus is detected; and performing a supplementary detection by Sanger method if a locus is detected to be a undefined locus derived from either a somatic mutation or a germline mutation. This method improves the positive mutation detection rate of LAM patients.
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