Companion Diagnostics for Oncology

Next Generation Sequencing (NGS) Based Multi-gene Panel-Testing for Cancer Diagnosis and Targeted Treatment.

A broad companion diagnostics with coverage across all solid tumors including, BRCAChek™, ColoChek™, ProstaChek™, PulmoChek™, LiquiChek

Cancer Genetic Testing at RGCS

Cancer is a genetic disease. It is caused by certain abnormal changes in the genes that control our cell functions, especially in their ability to divide and grow. Cancer represent a significant health problem in India. Most Indian families will have some members who have had cancer. Some of the common cancers in India include breast cancer, cervical cancer, prostate cancer, colon cancer, lung cancer and blood cancer. Fortunately, medical science has identified a large collection of genes in which abnormalities contribute to these and other cancers. Genetic testing, therefore, provides a window of opportunity for early detection, diagnosis and intervention. Cancer genetic testing can help estimate your chance of developing cancer in your lifetime. Catching cancer early often allows for more treatment options.

To empower clinicians and patients, RGCS has validated Next Generation Sequencing based method to sequence a number of known genes related to hereditary and sporadic cancers, and comprehensive genetic profiling of tumors. These gene screening panels were developed and its performance characteristics were validated by RGCS to study cancer hotspots, single nucleotide variants (SNVs), insertions/deletions, and copy number variants (CNV) and genes fusion from DNA and RNA. Since all the testing is done in-house, a standard-of-care report can be provided within 10 calendar days. Genetic tests are available for breast, ovarian, colon, thyroid, blood and other cancers.

PulmoChek™; NGS Lung Cancer Panel

Comprehensive Genetic Profiling;

  • 1. Comprehensive profiling of 50 genes to identify all classes of variants including base substitution and insertion/deletion mutations, copy number variants and gene fusions.
  • 2. Covers standard of care, NCCN recommended biomarkers and additional emerging biomarkers for clinical trials. 1-5
  • 3. Quick turn-around-time: 14 days on average.
  • The PulmoChek™ NGS test provides current, clinically relevant, and well-referenced information for >400 genomic alterations
  • Detection of SNVs, CNVs, gene fusions, and indels

PulmoChekTM is an NGS based genetic test for lung cancer that analysis variants in genes including HRAS, K-RAS, ALK, ROS1, NOTCH1, PIK3CA , B-RAF , EGFR , RET , AKT1, PTEN, TP53,ERBB2 MET , STK11 >2000 COSMIC mutations in 15 oncogenes and tumour suppressor genes scanned
Detects SNVs, InDels, and large exon/gene deletions/duplications

Sample

  • Blood for Germline changes
  • FFPE for somatic changes
  • FNA
  • Histopathology slides

BRCAChek

BReast CAncer1 & 2 genes, these genes are present in everyone and play an important role regulating cell growth in our bodies. BRCAChek™ is used for the detection of germline pathogenic variants in patients at increased risk for breast and ovarian cancer.

A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2.

BRCAChek™a Next-Generation Sequencing assay for detection of Germline and Somatic BRCA1 and BRCA2 gene variants. Annotation or mutations of BRCA gene can cause increased risk of several types of cancer, including breast, ovary, prostate and pancreatic cancer.

100% exon coverage across both BRCA1 and BRCA2 genes, high uniformity and sequencing reads across all exons, allowing for over 99% confidence in detecting 5% somatic variants.

ColoChek

Molecular testing of colorectal cancer (CRC) is currently the standard of care for guiding the use FDA-approved targeted therapies such as anti-EGFR and anti-PDL1 antibodies.

Test panel also can be used for the detection of germline pathogenic variants in patients at increased risk for colon cancer.

ColoChekTM is an NGS based method that analyses 11 high-risk colorectal cancer genes (EPCAM, MLH1, MSH2, MSH6, PMS2, MUTYH, APC, BMPR1A, SMAD4, PTEN and STK11) to determine genetic predisposition for the disease.

ProstaChek

About 10% of all prostate cancers are hereditary, meaning that an increased risk for the disease run in the family. Men with mutations in the BRCA2 gene have increased risk for prostate cancer. ProstaChek™ is a next-generation sequencing test offered for men with, or at risk of prostate cancer.

Gene List
ATM, BRCA1, BRCA1, CHEK2, EPCAM, HOXB13, MLH1, MLH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53

LiquiChek

Comprehensive liquid biopsy test for cell-free nucleic acids assay, from blood sample is a multibiomarker next-generation sequencing (NGS) assays that enable reproducible detection of somatic mutations in plasma, down to a level of 0.1% in genes relevant to solid tumors.

Optimized liquid biopsy assay focuses on primary driver and resistance mutations in cell-free nucleic acids.

A non-invasive genetic screening test designed for early cancer detection and monitoring. The test is designed to detect mutations that are commonly associated with breast, lung and colorectal cancers. Can be used to detect tumor DNA in high risk but otherwise healthy individuals, and in patients with active or previously diagnosed cancer patients. This is a highly advanced diagnostic molecular test that analyses small DNA

Fragments that are shed from cancer cells and released into the blood circulation. Early detection is the single most important factor in ensuring successful treatment and improved survival rates.

Leukaemia/Lymphoma panel -RT-PCR (TAT -10 calendar days)


Leukaemia Translocation Panel—a multiplexed, one-step RT-PCR assay that detects 28 translocations simultaneously. FOR: AML acute myeloid leukaemia, ALL acute lymphocytic leukaemia, CML chronic lymphocytic leukaemia, MDS myelodysplastic syndromes, APL acute promyelocytic leukaemia, CMML chronic myelomonocytic leukaemia, CEL chronic eosinophilic leukaemia
Table 5. List of 28 Translocations.