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Next Generation Sequencing (NGS) Clinical Assays

Next generation sequencing has revolutionized the study of human diseases and provided tools to devise the reliable and cost effective solution to understand and diagnose the underlying genetic causes of hundreds of human diseases. These efforts have led to the development of timely preventive measures and optimized treatments to efficiently treat various disorders.

Genes2Me provides a whole range of focused NGS panels dedicated and capable of providing diagnosis and prognostic solutions for prevention as well as treatment of a variety of genetic and somatic cancers, Cardiovascular, Respiratory and Neurological disorders and capture of drug metabolism related genes.


Salient Features of Genes2Me NGS Panel

  • Genes2Me panels are hybridization probe based panels that efficiently capture the genetic mutations in hundreds of thousands of genes in a single tube.
  • Advanced capture technology enables pooling of up to four independent patient samples for capture without hampering Quality of the Results.
  • Panels have a demonstrated uniformity of depth of sequencing across all the genes in a panel.
  • Robust bioinformatic pipeline to identify the low frequency alleles in the sample.
  • Low input DNA (≥ 50 ng) even from low quality samples (FFPE) and ctDNA from blood ((≥ 20 ng).
  • Compatible with all three major Sequencing platforms, MGI, Thermo Fisher and Illumina presently in use.
  • Automated bioinformatics pipeline that performs primary, secondary and tertiary analysis of the assay to generate clinically relevant results.

Whole Exome Sequencing Panel

  • 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.

Clinical Exome Sequencing (CES) Expanded Panel

  • 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.

Pan Cancer

  • 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.

Comprehensive Respiratory Virus Panel (CRVP)

  • 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

  • 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

  • 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.
Pan Cancer Panel - NGS
Med4Me standard Panel
Med4Me standard panel covers a total of 122 genes related to the individual’s response to various drugs.

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And precisely identifies polymorphism in these genes related to metabolism of various drugs used for Oncology, Haematology, Cardiovascular, Urology, Neurology, Tissue and Organ transplantation, Endocrinology, Psychiatry, Pain management, Recreational Drugs, Anesthesiology, and Internal medicine.

The Med4Me standard panel covers clinically relevant SNV, Indels and CNV in the Whole CDS and UTRs (-50bp to +10bp) of the corresponding genes spanning 534kb target size for sequencing.
Oncocheck Panel - NGS
Med4Me Epilepsy Panel
A panel dedicated to capture mutations in anti-epileptic drug metabolism related genes.

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This panel consists of 91 genes and covers whole CDS and UTR (-50bp to +10bp) spanning 534kb target size for sequencing.
As most of the anti-epilepsy drugs fail to prevent seizure and treat the condition, considering the pharmacogenomics of epilepsy can be of immense importance in optimizing the dosage and the treatment regimen for the same.
HLA Typing NGS Panel
Med4Me Antituberculosis Panel
Med4Me Anti-tuberculosis panel is a comprehensive panel covering a total of 132 genes associated

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with anti-tuberculosis drugs metabolic pathways genes mainly linked with liver injury. Drug induced liver injury (DILI) is a commonly observed adverse effect of antituberculosis drugs causing acute liver failure, thereby leading to treatment failure and in-turn development of multidrug drug resistant (MDR) tuberculosis.

The Med4Me Antituberculosis panel covers whole CDS and UTR (-50bp to +10bp) for the given set of genes covering 186 kb target size for sequencing and capture of clinical actionable SVN, Indels and CNV mutations.

Liquid Biopsy Panels

  • 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.
Pan Cancer Panel - NGS
ctDNA Colorectal Panel
One of the three liquid biopsy based NGS panels, associated with the capture and screening

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of 16 genes known to be associated with colorectal cancer. The Panel enables SNV and Indel screening in the whole CDS region of these genes with a target size of 18kb. The assay is sensitive enough to reproducibly run with ≥20 ng of cfDNA (Plasma).
Oncocheck Panel - NGS
ctDNA Breast Panel
The ctDNA Breast panel supports the diagnosis of 27 genes related to breast cancer. The panel covers major mutation

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classes like SNV and Indel in whole CDS of the 27 genes with the 99kb target size. The assay is sensitive enough to reproducibly run with ≥20 ng of cfDNA (Plasma).
HLA Typing NGS Panel
ctDNA Lung Panel
The ctDNA lung panel supports the diagnosis of 28 genes related to lung cancer. The panel covers major mutation classes

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like SNV and Indel in whole CDS of the 28 genes with the 47kb target size. The assay is sensitive enough to reproducibly run with ≥20 ng of cfDNA (Plasma).

Neurological Disorders

  • 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.
Pan Cancer Panel - NGS
Neuromuscular NGS Panel
Neuromuscular NGS Panel supports screening of a total of 293 genes related to four major diseases,

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Movement disorders, Neuromuscular disorders, Charcot-Marie-Tooth disease and Muscular dystrophy. In the panel, all major genetic mutations like, SNV, Indel and CNV are covered as target regions in the whole CDS and hotspot as target region.
Oncocheck Panel - NGS
Epilepsy NGS Panel
Epilepsy NGS Panel enables screening of 142 genes associated with epilepsy.

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In the panel, all major genetic mutations like, SNV, Indel and CNV are covered in the whole CDS and hotspot of genes as target region.
HLA Typing NGS Panel
Alzheimer-Parkinson-Dementia
Alzheimer-Parkinson-Dementia Panel covers a total of 101 genes for the screening of SNV,

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Indel and CNV in the whole CDS and hotspot as target region.

Oncology Panels

  • 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.
Pan Cancer Panel - NGS
BRCA1/2 Panel
BRCA1/2 Panel enables diagnosis of germline and somatic cancer in the whole CDS (+/-40bp) and promoter regions of BRCA1 and

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BRCA2 genes with high specificity. Panel is designed to target all the major mutation types like, SNV, Indel and CNV in the Whole Exon regions of BRCA1, 2 genes (RefSeq) and validated to yield 100% coverage. Panel is compatible with a variety of sample types (Blood and FFPE) with ≥ 50 ng fragmented DNA.
Pan Cancer Panel - NGS
Common Hereditary Cancer NGS Panel
Common Hereditary Cancer NGS Panel is designed to detect SNV,

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Indel and CNV mutations in 61 genes associated with common hereditary cancers.
Pan Cancer Panel - NGS
Lymphoma NGS Panel
Lymphoma is a cancerous condition in the lymphatic system that includes lymph nodes, thymus gland, spleen and bone marrow.

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Lymphoma NGS Panel is an NGS assay designed to diagnose 75 genes associated with Lymphoma. This panel enables detection of all three major mutation types, SNV, indel and CNV in the 75 genes.
Oncocheck Panel - NGS
Lymphoid Leukemia NGS Panel
Lymphoid Leukemia is a cancerous condition of blood and bone marrow in which bone marrow produces an abnormally high number of lymphocytes.

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This panel supports the diagnosis of 75 genes associated with Lymphoid Leukemia. This panel enables detection of all three major mutation types, SNV, indel and CNV in the 75 genes.
Oncocheck Panel - NGS
Myeloid Leukemia NGS Panel
Myeloid Leukemia refers to a cancerous condition of bone marrow which affacts white blood cells other than lymphocytes,

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Red blood cells and platelets. This panel supports the diagnosis of 49 genes related to Myloid Leukemia. This panel enables detection of all three major mutation types, SNV, indel and CNV in the 49 genes.
Oncocheck Panel - NGS
OncoCheck Panel
OncoCheck Panel analyzes 31 oncogenes associated with inherited cancer. These were precisely selected from contract research organizations

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and numerous research studies. The panel is integrated with a robust bioinformatics system for the analysis of large deletions. The panel also provides information for HDR grade computation aid precision. This panel screens a target size of 96 kb for 31 genes to identify SNV, Indel, CNV, and chromosomal rearrangements.
HLA Typing NGS Panel
CancerCheck 50 Panel
CancerCheck 50 Panel is an expanded NGS assay designed to detect all types of variants in over 50 genes associated with various somatic cancers.

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This panel supports the identification of all majorly occurring mutations like SNV, Indel, CNV, and chromosomal rearrangements as well as tumor immunotherapy markers like MSI and TMB.
HLA Typing NGS Panel
CancerCheck 100 Panel
CancerCheck 100 Panel is a comprehensive NGS assay designed to detect all types of variants around 100 genes associated with various somatic cancers.

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This panel supports the identification of all majorly occurring mutations like SNV, Indel, CNV, and chromosomal rearrangements as well as tumor immunotherapy markers like MSI and TMB.

Disease Specific Panels

  • Disease Specific Panels enable comprehensive analysis of a broad range of diseases associated with Skin, Bleeding disorders/Coagulation and inborn errors of metabolism.
Pan Cancer Panel - NGS
Bleeding Disorder/Coagulopathy NGS Panel
Bleeding Disorder/Coagulopathy NGS Panel covers a total of 139 genes with whole CDS and

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hotspots as target regions to detect major mutations like SNV, CNV and Indel.
Pan Cancer Panel - NGS
HLA typing NGS Panel for Donor Selection
HLA typing is a kind of genetic test that looks into factors related to the immune system, test is to figure out safe donors of organ,

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bone marrow, stem cell or tissue transplant to the desired recipient. Our HLA typing panel features amplification of six specific human leukocyte antigen (HLA) genes present in the Major Histocompatibility Complex (MHC) region with deep coverage (>1000x) and ultra-high allelic resolution.
Oncocheck Panel - NGS
Skin Disorder NGS Panel
Skin Disorder NGS Panel enables screening of a total of 152 genes related to various skin disorders for whole CDS and hotspots

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Skin Disorder NGS Panel enables screening of a total of 152 genes related to various skin disorders for whole CDS and hotspots as target regions covering major mutations like SNV, CNV and Indel.
HLA Typing NGS Panel
Metabolic Disorders NGS Panel
Metabolic Disorders NGS Panel enables screening of a total of 71 genes related to various skin disorders for

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whole CDS and hotspots as target regions covering major mutations like SNV, CNV and Indel.

Disclaimer: All products listed above are the products of Genes2Me Private Limited. Apart from that, all other product names, trademarks and logos wherever used are the

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