SZA Longevity Carrier Screening Test uses Whole-exome sequencing (WES) which is a widely used next-generation sequencing (NGS) method. WES provides coverage of more than 95% of the exons, (the expressed or the protein-coding regions of the genome), which harbor the majority of the large genetic variants and single nucleotide polymorphisms (SNPs) associated with human disease phenotypes . Of the ~3 billion bases that comprise the human genome, only about 1% is represented by coding sequences .

Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. It enables your healthcare provider to focus on the genes most likely to affect phenotype.

Exome sequencing is limited to the variants found in the coding region of genes which affect protein functionality. The other variants such as the structural and non-coding variants associated with diseases can not be identified with this test. Genome-wide sequencing methods will allow the identification of all the variant types which could be associated with the pathogenic phenotypes. If you need a more comprehensive analysis, you can upgrade your test to Whole Genome sequencing based Comprehensive Newborn Screening Test.