What next‑generation sequencing (NGS) services are available in India?

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Last updated: October 6, 2026 • View editorial policy

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NGS Services Available in India

Multiple next-generation sequencing services are available in India for clinical genetic testing, including targeted gene panels (typically 50-129 genes), whole exome sequencing, and comprehensive cancer genomic profiling, offered through both academic medical centers and commercial diagnostic laboratories. 1, 2

Types of NGS Testing Available

Cancer Genomics

  • Targeted multigene panels for solid tumors detecting actionable mutations in lung adenocarcinoma (EGFR, ALK, ROS1, BRAF, MET, NTRK), colorectal cancer (KRAS, NRAS, BRAF, MSI-H), and other malignancies 3
  • Comprehensive genomic profiling analyzing 50-100+ cancer-related genes simultaneously
  • Liquid biopsy options using circulating tumor DNA for mutation detection
  • Both DNA-based and RNA-based NGS platforms are accessible

Hereditary Disease Testing

  • Targeted deafness gene panels covering 129+ genes for nonsyndromic hearing loss 4
  • Rare disease panels for inherited genetic disorders 1
  • Carrier screening panels for preconception genetic counseling 5
  • Newborn screening applications using NGS technology 5

Hematological Disorders

  • Myeloid malignancy panels detecting mutations in genes like RUNX1, TP53, SF3B1, SRSF2, U2AF1, TET2, DNMT3A, IDH1/2, ASXL1, and EZH2 2
  • Both benign and malignant hematology applications are established 2

Clinical Utility and Outcomes

Real-world evidence from South India demonstrates significant survival benefit: Patients with advanced NSCLC who underwent NGS testing had significantly improved overall survival compared to non-NGS groups (P = 0.0038). More importantly, those receiving NGS-matched targeted therapy showed dramatically better progression-free survival (P < 0.00011) and overall survival (P < 0.0001) compared to non-matched treatments 3.

Key Considerations for Implementation

Quality Standards

  • NGS reports should include ranking of genomic alterations using established frameworks (ESCAT or OncoKB) 6
  • Laboratories must maintain rigorous quality control for variant calling and interpretation 7
  • Both academic centers and commercial laboratories offer services, though standardization varies

Turnaround Time and Cost

  • Results typically available in 2-4 weeks for comprehensive panels 8
  • Cost-effectiveness considerations are important, particularly when comparing to sequential single-gene testing 6
  • Targeted panels are generally more affordable than whole exome/genome sequencing

Clinical Applications by Cancer Type

Strongly recommended for:

  • Lung adenocarcinoma: Multigene NGS is standard of care to assess level I alterations (EGFR, ALK, ROS1, BRAF V600E, MET exon 14, NTRK, KRAS G12C) 6, 9
  • Prostate cancer: For detecting BRCA1/2, ATM, and PALB2 alterations 9
  • Colorectal cancer: Alternative to PCR if cost-neutral, detecting KRAS, NRAS, BRAF, MSI-H, KRAS G12C 9
  • Cholangiocarcinoma: For level I alterations including FGFR2 fusions and IDH1/2 mutations 6

Not currently indicated for:

  • Squamous cell lung cancer
  • Breast cancer (except for somatic BRCA1/2 in specific contexts)
  • Gastric, pancreatic, or hepatocellular carcinoma in routine practice 6

Important Caveats

Knowledge Gaps

A significant concern is the disparity in genomic knowledge among clinicians ordering these tests 1. The Indian Academy of Medical Genetics emphasizes need for guidance on appropriate test selection and result interpretation.

Patient Understanding

Studies show that while educated laypersons in India demonstrate good general understanding (80.3% correct responses), approximately half experience distress about results and may pursue prenatal testing based on uncertain findings, highlighting the critical need for genetic counseling 5.

Technical Limitations

  • GJB2-negative cases in hereditary conditions require comprehensive panels for diagnosis 4
  • Detection of secondary/incidental findings requires pre-test counseling about actionable versus non-actionable conditions 5
  • RNA-based NGS may be necessary to confirm functional fusion proteins when DNA-based testing shows rearrangements 6, 8

Access and Equity

While NGS is increasingly available in India, ensuring equitable access across resource-limited settings remains a challenge. The technology is concentrated in major academic centers and urban commercial laboratories 1, 2.

References

2
Research

Applications of Next Generation Sequencing in Haematological Disorders-Indian Status: Updates from ISHBT 2018.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, 2019

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