For example, of the 86 variants involving TSC1/2 identified in this study, the target NGS identified 75 SNVs and indels, CMA identified 9 CN-LOHs and a duplication, and MLPA identified a duplication, emphasizing the significance of combining different genetic methods for achieving maximal detection rate of TSC1/2 mutations in LAM patients. Here, TSC1 is linked to lymphangioleiomyomatosis.