TSC1 and lymphangioleiomyomatosis: A combined use of methods (NGS, Sanger sequencing, CMA, and MLPA) identified a total of 86 clinically significant genetic variants of TSC1/2 in 46 of the 61 LAM patients, with the remaining 15 patients showing negative results, representing an overall positive detection rate of 75.4% (46/61) in which TSC2 and TSC1 variants were 88.37% and 11.63% respectively (Fig 1, S4 Table).