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. 2025 Sep 25;13:1672155. doi: 10.3389/fchem.2025.1672155

TABLE 3.

Advantages and disadvantages of various point mutation detection techniques.

Based point mutations detection Advantages Disadvantages
Sanger Technologically mature, High accuracy Low sensitivity, High cost
NGS High-throughput, High sensitivity, Well-suited for complex mutations Complex data analysis, High error rate, Requires relatively specialized equipment
TGS Long-reads, More suitable for detecting large-scale variations High cost, Low adoption rate, Time-consuming
Guided enzymes Technological maturity, Programmability, Low cost, Broad application potential Limitations of PAM sequences, Off-target effects, Delivery challenges, Immune response
Ligase Low sample requirement, Multiplex detection capability, High sensitivity Thermal instability, Low catalytic efficiency, Complex probe design
DNAzyme Low cost, Programmability, High stability, Low immunogenicity Low catalytic efficiency, Metal ion-dependent, Complex synthesis
Nanozyme High stability, Versatile design, Easy to synthesize, High sensitivity Potential toxicity, Challenges in large-scale production, Low specificity
Enzyme-free Low cost, Programmability, Easy to operate High design complexity, Low sensitivity, Restricted in vivo application
Colorimetry Simple and rapid operation, Visual readout, High sensitivity Background interference, Sensitive to reaction conditions, Difficult to quantify
Fluorescence methods High sensitivity, Quantitative analysis capability, Multiplex detection Background interference, High cost, Requires sophisticated equipment
Electrochemical methods High sensitivity and specificity, Rapid detection Complex operational procedure, Limited clinical applicability
SERS Multiplex detection, High sensitivity and specificity, Low sample consumption, Rich molecular information Requires sophisticated equipment, Difficult to quantitative detection, Complex signal analysis, Requires sophisticated probe design
PNA High affinity, Resistant to enzymatic degradation, High specificity Poor aqueous solubility, Inefficient cellular internalization, High production costs
LNA Enhanced binding affinity, High stability, Compatibility with various detection platforms Probe structural rigidity, Potential toxicity risks, Complex probe design
Pure nucleic acid probe Programmable structure and function, Multiplatform compatibility Insufficient dynamic regulation, Limited interference resistance
AI-assisted High accuracy, High efficiency, Minimal errors and biases Technologically immature, Black box effect, High technical requirements