Detection of point mutations DNA sequencing Capillary-based automated fluorescent dideoxy(Sanger) cycle sequencing rO,> Massively parallel sequencing(next-generation sequencing,)(not yet in utine use in clinical laboratories) Allele-specific PCR using allele-specific oligonucleotides (Asos) For a known(e.g. recurring) single mutation O,-Multiple as in an amplification refractory mutation system(ARMS)and oligonucleotide ligation assay (OLA) Restriction digest and gel electrophoresis (e.g. if a restriction site is created or abolished by the mutation) Detection of expanded trinucleotide repeats Fluorescent PCR and product-length analysis on an automated DNA sequencer Triplet repeat-primed PCR (TP-PCR) Southern blotting(e.g. for fragile X syndrome) using radioactivity or chemiluminescence Pre-sequencing mutation screening Heteroduplex analysis by gel electrophoresis Conformation-sensitive capillary electrophoresis(CSCE) Denaturing high-performance liquid chromatography(dHPLC) High-resolution melt curve analysis (HRM) Detection of submicroscopic duplications and deletions Multiplex ligation-dependent probe amplification(MLPA) Multiplex(dosage) PCR (less commonly used than MLPA) Array comparative genomic hybridisation(aCGH) Rapid detection of aneuploidies Quantitative fluorescent PCR(QF-PCR)