Next Generation Sequencing (NGS) Clinical Assays

TWES is usage of NGS sequencing technology for the diagnosis of diseases causing variants in entire protein coding regions or exomes in the human genome corresponding to >19000 genes. WES covers more than 95% of the exons, which contains 85% of disease-causing mutations in Mendelian disorders and many disease-causing SNPs throughout the genome. It helps in correct diagnosis of rare genetic disorders and syndromes for which no etiology is known.

Genes2Me Whole Exome Sequencing (WES) Panel is a comprehensive solution that covers all target regions of major WES panels available in the market. With a target size of 37.1 Mb, the panel does not compromise performance in terms of coverage and uniformity. It enables highly efficient and cost-effective sequencing of the human whole exome. The panel coverage spans across exon regions from RefSeq, CCDS, and GENCODE.
Panel Performance

WEB panel shows exceptional performance for parameters like on-target read ratio, 0.2x mean depth coverage uniformity, and Fold-80 base penalty.

The clinical Exome Sequencing (CES) Expanded Panel has overcome the limitations of analysing clinical diseases with whole exome sequencing. By selectively targeting the clinically significant genes, the panel enables comprehensive analysis with the most effective sequencing throughput.

A comprehensive NGS panel that enables the screening of the Clinical human exome corresponding to 7513 clinically relevant genes (coding regions of the genome) of diseases associated with genetic mutations as well as mitochondrial genome. This panel supports the identification of all major clinically actionable SNVs, Indels and CNVs across the 7513 genes covering the CDS, hotspots and mitochondrial genome as well as adding up to a target size of 19.5Mb for sequencing. Assay is effectively able to run with ≥ 50 ng of Blood sample isolated DNA.

The PanCan is a comprehensive cancer diagnosis NGS panel capable of screening all variant types and immuno-oncology markers (MSI and TMB), which are crucial biomarkers for cancer immunotherapy. For CNV analysis, different cut-offs are applied according to the ratio of cancer cells. The panel is also designed to detect Epstein-Barr virus (EBV) and Human Papillomaviruses (HPV), allowing for the comprehensive analysis of cancer-associated genes.

This PanCan panel supports screening of a total of 524 genes using as little as 50 ng genomic DNA from FFPE or fresh frozen tissue and enables detection of mutations like SNV, INDELS, CNV, Chromosomal Rearrangement as well as important immuno-oncology markers (TMB and MSI).

Panel is also equipped to detect variants of EBV and HPV viruses that are known to be associated with onset and progression of carcinoma in humans. The panel encompasses whole CDS, custom regions of various oncogenes, Immune response genes as well as EBV and HPV virus genes generating a total of 2.5Mb sequencing data.

Viral infections commonly affect the upper or lower respiratory tract. The comprehensive respiratory virus (CRVP) Panel was developed to detect and sequence respiratory disease causing viruses in humans using NCBI refSeq Database as its foundation. The panel workflow can be completed in a single day using Hybridization Enhancer Technology.

CRVP is equipped to simultaneously diagnose mutations in 9 different viral species and corresponding 39 strains of clinical significance including Coronavirus, Influenza and Human Adenovirus. The panel is inclusive of stand-alone BI analysis software (Virus verifier) and all the required kit components. Reliable output even with low quality specimens and samples. CRVP panel offers high detection sensitivity and allows double pandemic/co-infection detection.

Cardiovascular Disorders collectively refers to conditions affecting heart or blood vessels and these can lead to fatal consequences. NGS has revolutionized the genetic study of cardiovascular diseases allowing the unprecedented opportunities to detect mutations associated with a range of heart diseases causing genes with high accuracy and in a cost effective manner.

The panel supports screening of a total of 174 genes for whole CDS and hotspot as target region. Panel covers all major mutant classes, SNV, indel and CNV in various heart diseases like Arrhythmia, Cardiomyopathy, Congenital heart defect, Dyslipidemia, Pulmonary hypertension, Aortopathy, Connective tissue disorder and other heart diseases.

Med4Me panels screen for variants in the genes of pharmacogenomics importance. Understanding the underlying genetics of varied responses of drug among different patients can help streamline and optimize the targeted treatment regimen for individual patients and in turn expedite the recovery. This section entails three focused panels termed as Med4Me standard panel, Med4me Epilepsy panel and Med4Me Antituberculosis panel.

According to the National Comprehensive Cancer Network (NCCN) guidelines liquid biopsy is the most suitable source of sample DNA for Colorectal, Lung and Breast Cancer diagnosis.

Highly sensitive assay panels and robust bioinformatic analysis pipeline was developed to enable cancer diagnosis from as low as 20 ng of ctDNA (Circulating tumor DNA) while minimizing the sequencing noise for VAF detection. Panel has gone through rigorous experimental validation and these are ready to be used for liquid biopsy based cancer diagnosis.

Neurological disorder is a collective term that defines disorders affecting the brain and nerves functions in the human body. Many Neurological conditions are caused by immensely heterogeneous gene mutations. The diagnosis is often long and complex for most patients undergoing multiple invasive and costly procedures without reaching a conclusive diagnosis. Genes2Me offers three different NGS panels individually covering Neuromuscular, Epilepsy and Alzheimer-Parkinson-Dementia related genes.

Oncology NGS panels cater in the form of a range of cancer diagnostic NGS solutions in the oncology segment. Next generation sequencing (NGS) provides an effective solution to gather the clinically actionable genomic information on various types of cancers that in turn can be translated into suitable prognostic and treatment decisions.

Disease Specific Panels enable comprehensive analysis of a broad range of diseases associated with Skin, Bleeding disorders/Coagulation and inborn errors of metabolism.

Genes2Me NGS Clinical Assays capture ‘Hard to Capture’ regions while analyzing multiple genes associated with a particular disorder or group of disorders. We provide high quality sequencing and are capable of specifically isolating the genomic loci of interest out of whole genome and enhanced sensitivity of detecting genetic mutations by producing higher coverage and in depth sequencing data.