Next generation sequencing (NGS)

Next generation sequencing (NGS) is a high-throughput technique used to study the order of nucleotides that make up regions of DNA that correspond to a gene (or genes).

Introduction 

Next generation sequencing (NGS) is a high-throughput technique used to study the order of nucleotides that make up regions of DNA that correspond to a gene (or genes).

Gene sequencing can be achieved by massively parallel next generation sequencing (NGS) techniques or traditional (Sanger) methods. Both determine the exact order of nucleotides (adenine, guanine, cytosine, thymine) that together make up strands of DNA. These correspond to the specific gene(s) being analyzed. NGS is essential to several applications relevant to clinical genetics, such as confirming a diagnosis or carrier status.

At Ambry, NGS utilizes a massive parallel sequencing technology that provides high throughput and analytical sensitivity.  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen, using a standardized kit and quantified by agarose gel electrophoresis. Sequence enrichment is carried out by incorporating the gDNA into microdroplets along with primer pairs designed to the specified target, followed by polymerase chain reaction (PCR) and NGS.