MODERN KARYOTYPING METHODS FOR DETECTING CHROMOSOMAL ABNORMALITIES IN CLINICAL AND RESEARCH SETTINGS

Abstract

Background: Genetic disorders, cancer, as well as reproductive health issues, are highly dependent on chromosomal abnormalities. The long term karyotyping techniques like G-banding have been in use but limited resolution of karyotypes has led to the uptake of other advanced molecular techniques.

Objective: This paper is designed to compare traditional G-banding with new karyotyping techniques such as fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), and next-generation sequencing (NGS) in the detection of chromosome abnormality in clinical and research practices.

Methodology: G-banding, FISH, aCGH, and NGS were used to examine 150 samples such as clinical and research samples. Methods were compared in terms of detection rates, resolution and diagnostic efficiency.

Findings: Abnormalities identified by G-banding were found in 52 percent of the cases, compared to 63, 75 and 85 percent with FISH, aCGH and NGS, respectively. Improved and sophisticated procedures were found to be more sensitive to detect the difference in their copy number and microstructural abnormalities that could not have been detected by the conventional procedures.

Conclusion: This is because modern karyotyping techniques greatly increase the accuracy of diagnostic detection of the abnormalities in chromosomes providing a higher resolution and diagnostic accuracy. G-banding is, nevertheless, still helpful in the context of large-scale chromosomal changes but needs to be supplemented with molecular and sequencing-based methodologies to conduct a thorough analysis of the genome.