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. 2022 May 9;55(8):e13248. doi: 10.1111/cpr.13248

TABLE 1.

Genetic stability assessment

Method Advantages Disadvantages
Cells Karyotyping Whole‐genome analysis, Detection of aneuploidy, polyploidy, and other large chromosomal imbalances Time consuming, Small resolution (High number of metaphases are needed), Cannot detect subkaryotypic variants
FISH (fluorescent in situ hybridization) Karyotype and information about mutations can be obtained Probes must be known genes/mutations, Limited number of colors can be seen with fluorescent microscope, Not suitable for genome wide application
DNA Microarray Provide information on DNA regions with gains or losses Cannot detect balanced rearrangements such as inversions
Whole‐genome/exome sequencing Very high and scalable throughput, High sensitivity and accuracy, Assess the whole genome at single‐base resolution Expensive, Complex result interpretation
PCR/ddPCR High resolution for the CNV and SNV detection, Cost‐effective Cannot comprehensive screening of chromosomal aberrations

Abbreviations: ddPCR, droplet digital PCR; CNV, copy number variation; SNV, single‐nucleotide variants.