Whole Genome Sequencing

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 Whole Genome Sequencing (WGS) stands as a thorough genetic assessment technique that scrutinizes the extensive human genome. It serves as a robust tool for identifying both known and potential genetic variations responsible for diseases. In contrast, alternative genetic tests like whole exome sequencing and chromosomal microarray analysis are limited to specific types of disease-causing variants. WGS emerges as a comprehensive, singular test capable of detecting a wide spectrum of variants, some of which may elude detection in more focused genetic tests.

WGS encompasses the identification of virtually all genetic variations linked to diseases, encompassing single-nucleotide variants, small insertions/deletions, and copy number variants. Moreover, WGS extends its reach to include variants within mitochondrial DNA and trinucleotide repeats, offering additional diagnostic utility compared to its counterparts.