How Use Of The NGS Test Platform Revolutionized Medical Diagnostics And Research

About a decade ago, next-generation sequencing got introduced to the laboratories. Next-generation sequencing, or NGS as it is popularly known, uses an NGS platform that has created a technological revolution in the field of human biology, medicine, and diagnostics. Various improvements have been made in the technique to enhance accuracy, handling, and robustness. Now, the NGS technique is used as an alternative to Sanger sequencing.

How NGS is proving its mettle

The use of rapid NGS instruments in clinical laboratories has led to faster and more accurate diagnosis results for different viral and bacterial infections in clinical diagnostics. This is because NGS allows parallel sequencing of target regions. 

NGS has also lead to the enhanced rate of discovery of the genes related to human disorders. It has infused new life ad validity into the elucidation of the molecular basis of complex diseases. 

With the introduction of improvised and rapid NGS instruments, the NGS technique in clinical laboratories is becoming more and more prevalent. NGS is now used in the diagnostics of various diseases, including:

• Infectious conditions.

• Immune-related disorders.

• Human hereditary disorders.

• Non-invasive prenatal diagnosis.

• Medical decision making in somatic cancers.

The use of the advanced NGS instrument in modern clinical laboratories makes it possible to quickly get clinical results and outcomes. There have been several NGS platforms available for several routine diagnostic applications. Sequencers allow for performing the high throughput analysis in a few days. Overall, it reduces expenditure while improving the overall efficacy of the diagnostics systems.

 Two primary technologies are used in the NGS platforms. These include:

• Ion Torrent technologies.

• Illumina Systems.

Ion torrent technologies apply the emulsion PCR employing native dNTP chemistry. It involves the release of hydrogen ions during base incorporation by DNA polymerase. A modified silicon chip is used for detecting pH modification.

Illume systems utilize the Solexa sequencing by synthesis chemistry. It involves the usage of small flow-cells, leading to a lower imaging time and rapid sequencing process.

NGS platform in clinical laboratories

The introduction of NGS is like a revolutionary genomic technology that is highly useful for detecting genomic variation in patients. It renders high accuracy and a great reduction in the diagnostic costs for the clinically heterogeneous inherited disorders. It has resulted in an increased reporting of the disease-causing genes. This is especially for the conditions that involve the role of interaction of multiple numbers of genes leading to the overlapping of pathological phenotypes.

 NGS is seen to be promising in the molecular elucidation of heterogeneous and complex diseases with a large number of genes involved in a large phenotypic spectrum, like:

• Cardiomyopathies- cardiac arrhythmias

• Connective tissue disorders

• Mental retardation or autism.

The use of the rapid NGS platform has become a necessity for research as well as modern clinical laboratories. Please reach out to Vela Diagnostics to learn more.