Targeted DNA sequencing and in situ mutation analysis using mobile phone microscopy

Molecular diagnostics is typically outsourced to well-equipped centralized laboratories, often far from the patient. We developed molecular assays and portable optical imaging designs that permit on-site diagnostics with a cost-effective mobile-phone-based multimodal microscope. We demonstrate that targeted next-generation DNA sequencing reactions and in situ point mutation detection assays in preserved tumour samples can be imaged and analysed using mobile phone microscopy, achieving a new milestone for tele-medicine technologies. On-site diagnostics technologies allow for rapid, cost-effective diagnosis with a particular importance for remote communities. Here the authors demonstrate the use of mobile phone based microscopy for targeted DNA sequencing andin situpoint mutation detection in tumours.