Latest methods used for detection of different mutation types
Single nucleotide changes: DNA sequencing. Other techniques more rarely used include single-strand conformation polymorphism, denaturing high-performance liquid chromatography and gel electrophoresis, restriction fragment length polymorphism, or hybridization analysis.
Copy number variants (CNVs) (for example, DNA deletions and duplications): array comparative genomic hybridization or chromosome microarray analysis, virtual karyotyping with single nucleotide polymorphism arrays, and in some instances next-generation sequencing. Other techniques more rarely used include cytogenetic techniques such as fluorescent in situ hybridization. DNA expansion mutations (for example, repeat sequences): polymerase chain reaction (PCR) and in some instances DNA sequencing techniques.