How NGS Testing Works

DNA or RNA samples are first broken into smaller fragments, and specialized adapters are attached to their ends. These adapters contain the necessary sequences for both amplification and sequencing.

The adapter-ligated fragments are then multiplied using a process called polymerase chain reaction (PCR), creating clusters of identical DNA fragments for easier detection during sequencing.

The amplified fragments are sequenced simultaneously using high-throughput technology. While different NGS platforms may use varying chemistries, the main goal is to accurately determine the order of nucleotides in each DNA fragment.

The raw sequencing data is processed with bioinformatics software to align the reads to a reference genome or transcriptome. This allows for the identification of genetic variations—such as single nucleotide changes, insertions, or deletions—and helps interpret their biological significance.