What is Molecular Testing for Cancer?

Solid Tumors

A group of tests offered by MedGenome for multiple cancer types including lung cancer, breast and ovarian cancers, colorectal cancer, gliomas and others that covers a range of markers by various techniques such as Next Generation Sequencing (NGS), Real Time PCR (RT-PCR), Immunohistochemistry (IHC) and others.

Solid Tumors


Solid Tumors

Lung Cancer

  • Second most common cancer in Indian males and alarming rise in women as well
  • Close to 68,000 new lung cancer cases constituting 6.5% of all new cancers

Breast and Ovarian Cancers (BOC)

  • Breast Cancer is highest prevailing cancer type, not only in females, but overall as well
  • Over 1.6 lakhs new breast cancer cases constituting 14% of all new cancer cases and close to 28% of cancer cases in Indian women
  • Ovarian Cancer contributes 6.2% of new cancer cases in women

Colorectal Cancer

  • Constitutes close to 5% of all new cancer cases
  • Prevalence more common in males than in females

Gastrointestinal Stromal Tumor

  • Common in Indian population
  • Cancer of stomach constitutes over 5% of new cancer cases


  • 10th most commonly occurring cancers
  • Around 2.7% new cancer cases being glioma

Other tumor types

  • Melanoma of skin, bladder cancer, thyroid cancer, salivary gland cancer and others not as common
  • Prevalence is also significant and the incidence is raising at an alarming rate

Common Tumor Types

lung cancer

Lung Cancer

breast tumor test

Breast Cancer

ovarian cancer

Ovarian Cancer

prostate cancer

Prostate Cancer

gastrointestinal cancer

Gastrointestinal Stromal Tumor

thyroid cancer

Thyroid Cancer

colorectal cancer

Colorectal Cancer

melanoma cancer


bladder cancer

Bladder Cancer

uterine cancer

Uterine Cancer

pancreatic cancer

Pancreatic Cancer

hepatocellular cancer

Hepatocellular Carcinomas

sarcoma cancer


thymus cancer

Thymus Cancer

glioma cancer


Why do you need the test?

Genetic testing for cancer aids in through the following outcomes:

Hereditary risk predictionDifferential diagnosisDisease prognostication
Targeted treatment or Personalized medicineTreatment monitoringRelapse monitoring


  • Target therapy significantly improved the survival of cancer patients in the last two decades
  • With nearly 200+ FDA approved drugs, which are biomarker driven,  for different subtypes of cancer, the treatment landscape of cancer patients has significantly improved
  • Several clinical studies have shown that addition of molecular profiling of tumors at the time of diagnosis, has given a significant value addition, thus improving the progression free survival and quality of life in these patients (BASKET, MATCH, UMBRELLA, CHECKMATE, LUX LUNG Series, PALOMA and others)

Non-small cell Lung Cancer

Targeted therapies guided by the molecular diagnostics considered as the standard of treatment for lung cancer patients. The presence of the genetic alterations in the cancer cells which drives the growth of the tumor (driver alterations) allows the selection of treatment regime for individual lung cancer patients.

GeneFrequency in NSCLCVariant TypeInhibitors
EGFR10-35%SNVs and InDelsErlotinib, Gefitinib, Afatinib and Osimertinib
KRAS20%SNVsTrametinib, Selumetinib
PTEN6%SNVs and InDelsPI3K-AKT inhibitors
ALK5%Rearrangements and SNVsCrizotinib, Ceritinib, Alectinib
MET3%AmplificationCrizotinib, Cabozantinib
PIK3CA2%SNVsPI3K-AKT inhibitors
HER22%SNVs and InDelsAfatinib, Neratinib
BRAF2%SNVsVemurafenib, Dabrafenib plus Trametinib
MEK11%SNVsTrametinib, Selumetinib
NRAS1%SNVsTrametinib, Selumetinib
ROS11%RearrangementCrizotinib, Cabozantinib
RET1%RearrangementCabozantinib, Vandetanib, Alectinib
Unknown Alterations35%Immunotherapy based on PD-L1/CTLA-4 checkpoint inhibitors

Breast and Ovarian Cancers

Molecular testing for breast and ovarian cancers is useful for following outcomes:

  • Hereditary risk assessment- Understanding hereditary risk for breast and ovarian cancers helps the individual take preventive steps in consultation with a physician
  • Early detection and improving overall survival- Various studies have shown the impact of early detection on the overall survival for breast and ovarian cancer patients
  • Prognosis
  • Deciding the best drug treatment- In case of BRCA1/2 mutations, PARP inhibitors improves the overall survival and progression free survival in breast and ovarian cancers

Colorectal Cancer

  • Hereditary Risk Prediction- Lynch syndrome is caused by mutations in mismatch repair (MMR) genes, inherited in an autosomal dominant pattern. Lynch syndrome is characterized by 80% lifetime risk for colorectal cancer and 60% lifetime risk of developing other cancers at an early age
  • Diagnosis- Detection of defects in the MMR system in CRCs is important and it is recommended that the tissue sample be examined for defective DNA MMR using MSI testing or immunohistochemical staining of MMR proteins
  • Targeted Therapy- Various signaling pathways play an essential role in carcinogenesis and progression of colorectal cancers, making them attractive therapeutic targets. Mutations in KRAS, BRAF, PIK3CA, EGFR and other genes help the clinicians decide precise course of treatment

Gastrointestinal Stromal Tumor (GIST)

  • Understanding mutation status in certain genes helps predict the response to tyrosine kinase inhibitors such as imatinib, sunitinib and others
  • More than 85% of GISTs show activating mutations in KIT or PDGFRα genes.

Glioma (Brain Tumor)

  • Understanding genetic alteration underlying glioma poses diagnostic, prognostic as well as therapeutic value
  • Differential diagnosis and prognosis for glioma subtypes paves way for further course of action
  • Certain genetic alterations are known to be indicative of response to therapies helping clinicians decide on targeted therapy

When do you need to get tested?

Based on the tumor type and intended outcome, one can go for genetic test at any stage. As far as hereditary risk prediction is concerned, a healthy individual can understand the mutation status, whereas for differential diagnosis, prognosis and targeted treatment, the clinician may decide at appropriate stage to prescribe molecular tests for solid tumors.

Who needs to get tested?

Oncologists can opt for molecular testing for their NSCLC patients at the start of treatment or when the first line either failed or patient was non-responsive to it.

  • A personal history of breast or ovarian cancer diagnosed at young age (premenopausal), bilateral breast cancer (affecting both breasts) or presence of both ovarian and breast cancer
  • A family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer
  • A male family member having breast cancer
  • A relative with a known deleterious mutation in BRCA1 or BRCA2 genes
  • A history of breast cancer diagnosed below age of 45 years
  • A family member with bilateral breast cancer below age of 50
  • An individual with triple negative breast cancer below age of 60 years with or without family history
  • Two or more relatives with ovarian cancer
  • Ashkenazi Jewish ethnicity
  • Both breast and ovarian cancers in either the same woman or the same family
  • CRC in a patient younger than 50 years of age
  • Synchronous or metachronous colorectal or other HNPCC-related tumors, such as endometrial, small bowel, gastric, ovarian, pancreatic, biliary, ureteral, or renal pelvis carcinomas, brain tumors, sebaceous gland adenomas, and keratoacanthomas, in a patient of any age
  • CRC with histologic features associated with MSI-H status (medullary, mucinous, or signet ring cell differentiation, presence of numerous tumor infiltrating lymphocytes, or presence of Crohn disease–like peritumoral lymphocytic reaction) in a patient younger than 60 years of age
  • CRC in 1 or more first-degree relatives with an HNPCC-associated tumor, with one of the patients being diagnosed before age 50 years
  • CRC in 2 or more first- or second-degree relatives with HNPCC-related tumors, regardless of age

For GIST patients, oncologists can opt for molecular testing in order to understand the response to tyrosine kinase inhibitors.

Glioma patients for whom the oncologists want to understand the genetic mutation status for informed decision making.

Why MedGenome?

MedGenome offers a range of tests for different types of solid tumors. Various testing techniques include next generation sequencing (NGS), Real-time PCR (RT-PCR), Fluorescent In-Situ Hybridization (FISH) and Fragment Analysis.

Non-small cell Lung Cancer
Test CodeTest NameMethodology
MGM481OncoFocus - ctDNA for EGFRNGS
MGM482OncoFocus Express ctDNA for EGFRNGS
MGM420OncoSelect ctDNA for EGFR T790M and C797SNGS
MGM403OncoTrack -ct DNA for Hot Spot mutations in 4 genes (EGFR, KRAS, NRAS, BRAF)NGS
MGM455Oncotrack - Ultima [Liquid biopsy for 56 theranostic genes ]NGS
MGM331Non Small cell Lung Cancer (NSCLC) NGS Panel (Hot Spot)NGS
MGM546ALK Resistance mutationsNGS
MGM547EGFR (T790M, L858R, exon 19 deletion) screening by ddPCRDroplet Digital PCR
MGM548EGFR T790M mutation screening by ddPCRDroplet Digital PCR
MGM190EGFR gene analysis (Hot Spot) - 4 exons (18, 19, 20, 21)RT-PCR
MGM573Lung combo panel - IHC (ALK D5F3, ROS1) & RT-PCR (BRAF V600E, EGFR[Hot Spot] exons 18, 19, 20, 21)IHC, RT-PCR, NGS
MGM539ALK D5F3 & ROS1 IHC analysisIHC
MGM238c-MET IHC analysisIHC
MGM506Lung tumor panel I (ALK D5F3, ROS1, c-MET)IHC
MGM505Lung tumor panel II (ANY TWO OF - ALK D5F3, ROS1, c-MET)IHC
MGM243ROS1 IHC analysisIHC
MGM1495Lung Advanced Panel by NGS & IHC [EGFR, ALK, ROS1, BRAF,MET (SNVs,Indels,Skipping mutations), RET, Her2 by NGS & PDL1 by IHC]Next Generation Sequencing & IHC
MGM1494Lung Advanced Panel by NGS [EGFR, ALK, ROS1, BRAF,MET (SNVs,Indels,Skipping mutations), RET, Her2]Next Generation Sequencing
MGM1493Lung Basic Panel by NGS & IHC [EGFR, ALK, ROS1, BRAF,MET (SNVs & Indels) by NGS & PDL1 by IHC]Next Generation Sequencing & IHC
MGM1492Lung Basic Panel by NGS [EGFR, ALK, ROS1, BRAF,MET (SNVs & Indels)]Next Generation Sequencing
MGM1496Lung Comprehensive Panel [EGFR, ALK, ROS1, BRAF, MET (SNVs,Indels,Skipping mutations), RET, Her2 by NGS, PDL1 by IHC & MSI by Fragment Analysis]Next Generation Sequencing , IHC & Fragment Analysis
Breast and Ovarian Cancer
Test CodeTest NameMethodology
MGM335Breast Cancer - NGS Theranostic Panel (Hot Spot)NGS
MGM537BRCA1 & BRCA2 somatic mutation testingNGS
MGM455Oncotrack - Ultima [Liquid biopsy for 56 theranostic genes ]NGS
MGM521FISH for Her2-neuamplificationFISH
MGM240Breast Prognostic/ predictive IHC2 panel (ER, PR)IHC
MGM241Breast Prognostic/predictive IHC3 panel (ER, PR, Her2/neu)IHC
MGM242Breast Prognostic/predictive IHC4 panel (ER, PR, Her2/neu, ,MIB-1/Ki67)IHC
MGM578ER IHC AnalysisIHC
Colorectal Cancer
Test CodeTest NameMethodology
MGM403OncoTrack -ct DNA for Hot Spot mutations in 4 genes (EGFR, KRAS, NRAS, BRAF)NGS
MGM455Oncotrack - Ultima [Liquid biopsy for 56 theranostic genes ]NGS
MGM291RAS extended profiling analysis by NGSNGS
MGM332Colorectal cancer -Theranostic Panel(Hot Spot)NGS
MGM203KRAS gene analysis (Hot Spot)RT-PCR
MGM217NRAS gene analysis (Hot Spot)RT-PCR
MGM527MSI by fragment analysisFragment analysis
MGM237BRAF V600E IHC analysisIHC
MGM312Lynch Syndrome Mismatch Repair (MMR) 4 gene (MLH1, MSH2, MSH6 &PMS2) panel – IHC [ Microsat ellite instability MSI]IHC
Gastrointestinal Stromal Tumor (GIST)
Test CodeTest NameMethodology
MGM333GIST (Gastrointestinal Stromal Tumor) - Theranostic Panel (Hot Spot)NGS
MGM404Her 2 – Gastric tissueIHC
MGM579Her2/neu IHC AnalysisIHC
Glioma (Brain Tumor)
Test CodeTest NameMethodology
MGM207MGMT gene methylation Analysis (Temozolomide Resistance)-
MGM1229Glioma combo panel [FISH for 1p/19q co-deletion, Hotspot tumor panel for IDH1 and IDH2 by NGS and MGMT gene methylation analysis (Temozolomide Resistance) by Realtime PCRNGS, FISH, RT-PCR


Lung cancer is the most common cause of death due to cancer, with a global estimate of nearly one death in five people (1.59 million deaths, 19.4% of the total).

Patient Stories

63-year-old Santosh Khurrana (name changed) felt the symptoms related to lung cancer and went for a consultation with Dr. Shyam Aggarwal.

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