Table 2.
Techniques used frequently for mutation detection, based on [17].
| Mutation Detection Techniques | Variant Types | |
|---|---|---|
| SNVs | CNVs | |
| Single-gene assays: | ||
| Sanger sequencing | + | - |
| pyrosequencing | + | - |
| allele-specific PCR | + | - |
| single base extension | + | - |
| multiplex ligation-dependent probe amplification | + | copy number only |
| mass spectrometry | + | - |
| Gene-panel assays: | ||
| amplicon-based panels | - | + |
| hybrid capture sequencing | - | + |
| next-generation sequencing | + | + |
| Fluorescence-based methods: | ||
| fluorescence in situ hybridization | - | + |
| microarray-based CGH | - | + |
Variant types are detected routinely (+) or cannot be detected (-). SNVs—single nucleotide variants, known as point mutations, small-scale deletions/insertions (indels); CNVs—copy number variants, including large-scale mutations such as amplifications, deletions, inversions, and translocations.