Biological Pillar 07Precision Oncology • Liquid Biopsy ctDNA • CNV Analysis • Exome & WGS

NGS & Precision Oncology: Hereditary & Somatic Genomic Panels

“Decoding your baseline genetic and oncological risk”

Targeted genomic analysis of tissue to identify clinically relevant mutations in specific cancer types. Precision oncology utilizes targeted next-generation sequencing to identify actionable oncogenic driver mutations, familial cancer predispositions (e.g. Hereditary Breast and Ovarian Cancer, Lynch Syndrome), and theranostic targets for targeted therapy matching. Reficio offers targeted deletion/duplication panels, multi-gene tumor screens, ultra-deep liquid biopsy ctDNA sequencing, and comprehensive exome/whole-genome platforms.

Select NGS Panel in PackagesExplore Oncology Pathways

Core Precision Oncology & NGS Panels

Targeted hereditary sequencing, solid tumor panels, and non-invasive liquid biopsy ctDNA profiles.

30-Gene Deletion / Duplication Panel

Hereditary Cancer CNV

₹14,000

Advanced deletion & duplication (CNV) analysis across 30 hereditary cancer risk genes

  • 30-Gene Targeted CNV Analysis
  • High-Resolution Deletion & Duplication Detection
  • Hereditary Cancer Risk Assessment
  • Listing Price: ₹14,000
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Comprehensive Multi-Layered Defense

OncoScreen 360

₹17,000

Comprehensive 317-gene multi-layered genomic defense against oncological risk

  • 317-Gene Comprehensive Panel
  • Multi-Layered Genomic & Epigenetic Defense
  • High-Value Multi-Gene Screen
  • Listing Price: ₹17,000
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56-Gene Liquid Biopsy Theranostic

OncoTrack Ultima 57 Gen

₹49,400

Precision theranostic liquid biopsy profiling 56 actionable oncogenes for targeted therapy guidance

  • 56 Actionable Liquid Biopsy Genes
  • Theranostic & Treatment Matching Guidance
  • Dual Profile: Overview & Clinical Utility
  • Listing Price: ₹49,400
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Comprehensive Liquid Biopsy Profile

NextGen LiquidBiopsy 118

₹60,000

Deep liquid biopsy profiling across 118 genes for actionable mutations, fusions, and CNVs

  • 118-Gene Comprehensive ctDNA Profile
  • Actionable SNVs, Indels, Fusions & CNVs
  • Ultra-Deep Non-Invasive ctDNA Sequencing
  • Listing Price: ₹60,000
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Hereditary Risk Sequencing

Cancerscreen Basic

₹88,500

Comprehensive hereditary cancer risk sequencing for in-depth familial predisposition analysis

  • Exhaustive Germline Sequencing
  • Familial Predisposition Navigation
  • Gold-Standard Comprehensive Germline Architecture
  • Listing Price: ₹88,500
Select Panel
Diagnostic Escalation Pathways • PPT Slide 12

The Diagnostic Escalation Funnel

Advanced Clinical Genomic Workups

When targeted hotspot panels or liquid biopsies indicate complex structural variants, rare germline alterations, or require total exonic profiling for tumor mutational burden (TMB), diagnostic workups escalate to comprehensive exome and whole-genome sequencing platforms.

Comprehensive Exome

Clinical Exome

₹22,050

Exome-level genomic screening covering all known disease-associated genes with deep clinical annotation.

Select (₹22,050)
Oncology Exome

Can Exome 360

₹25,000

Dedicated oncology exome platform for comprehensive tumor mutational burden (TMB) and somatic/germline architecture.

Select (₹25,000)
Total Genomic Architecture

Whole Genome (WGS)

₹95,550

Total genomic sequencing of coding and non-coding regulatory regions for unresolved diagnostic queries.

Select (₹95,550)
Pillar 07 • Biological Education Journey14 Visual Assets & Modules
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NGS & Precision Oncology

“Decoding cancer at the molecular level: Liquid biopsies & targeted genomics”

Next-Generation Sequencing provides massively parallel genomic profiling to identify actionable oncogenic drivers, familial cancer predispositions (HBOC, Lynch Syndrome), and circulating tumor DNA (ctDNA) for liquid biopsy theranostics.

Stage 1: Scientific & Biological Mechanisms

Sequential physiological and cellular decomposition from the canonical Reficio presentation

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NGS Cancer Risk Overview - Slide 24
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NGS & Cancer Risk Clinical Overview

Targeted genomic analysis of tissue and blood for actionable oncogenic mutations

Next-Generation Sequencing identifies single nucleotide variants, indels, copy number variations, and fusions in critical cancer genes such as EGFR, KRAS, BRAF, and TP53 to match FDA/EMA approved targeted therapies.
Clinical Mechanisms & Biological Insights
  • High depth (>10,000x) liquid biopsy sequencing detects low-frequency circulating tumor DNA in peripheral blood.
  • Germline testing identifies inheritable variants requiring cascade familial screening.
Key Biomarkers Mapped in this Module
EGFRKRASBRAFTP53BRCA1/2
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Genomic Risk Architecture - Slide 25
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Decoding Genetic & Oncological Risk Architecture

From Inherited Predisposition to Somatic Driver Mutations

Genetic predisposition establishes baseline vulnerability, while somatic mutations accumulate over time due to environmental exposures and replication errors. Comprehensive profiling monitors both baseline and active oncogenic drivers.
Clinical Mechanisms & Biological Insights
  • ACMG/AMP guidelines categorize genomic variants as Pathogenic, Likely Pathogenic, VUS, Likely Benign, or Benign.
  • Liquid biopsy ctDNA enables non-invasive longitudinal tracking of therapy response.
Key Biomarkers Mapped in this Module
BRCA1/2Lynch Genes (MLH1, MSH2, MSH6, PMS2)Tumor Mutational Burden (TMB)
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Precision Oncology: Decoding Cancer at the Molecular Level
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Decoding Cancer at the Molecular Level

Liquid Biopsies & Precision Genomic Profiling in Oncology

Liquid biopsy profiling analyzes circulating cell-free DNA (cfDNA) and circulating tumor DNA (ctDNA) shed into the bloodstream, enabling non-invasive detection of actionable somatic mutations across solid tumors.
4Deep-Dive Assetgenomic deepdive
Precision Oncology: Four Pillars
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The Four Pillars of Precision Oncology

Diagnosis, Prediction, Targeted Treatment, and Longitudinal Monitoring

Precision oncology integrates four essential clinical dimensions: accurate molecular diagnosis, prognostic risk stratification, matching actionable variants to targeted therapies, and longitudinal minimal residual disease (MRD) tracking.
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Liquid Biopsy Paradigm Shift
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Shifting Paradigm: From Scalpel to Syringe

Non-Invasive Circulating Tumor DNA Profiling vs Surgical Biopsies

Contrasts traditional invasive tissue biopsies with rapid, non-invasive liquid biopsy sampling capable of capturing intra-tumoral heterogeneity and longitudinal clonal evolution.
6Deep-Dive Assetgenomic deepdive
Hereditary Cancer 30-Gene CNV Panel
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Hereditary Cancer 30-Gene Deletion/Duplication CNV Panel

High-Resolution Exon-Level Copy Number Variation Analysis

Evaluates 30 high-penetrance germline cancer predisposition genes including BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, TP53, PTEN, and CDH1 with exon-level copy number variation (CNV) detection.
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OncoScreen 360 Panel
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OncoScreen 360: Multi-Layered Cancer Defense

317-Gene Comprehensive Solid Tumor & Hereditary Profiling

High-throughput 317-gene NGS panel analyzing oncogenic driver mutations, microsatellite instability (MSI), and actionable alterations across lung, breast, colorectal, and ovarian malignancies.
8Deep-Dive Assetgenomic deepdive
OncoTrack Ultima 57 Gen ctDNA Panel
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OncoTrack Ultima: 56-Gene Liquid Biopsy Theranostic Panel

Ultra-Deep cfDNA/ctDNA Hotspot Sequencing for Targeted Therapy Matching

Ultra-deep (>20,000x) ctDNA hotspot sequencing covering 56 clinically actionable oncology genes to identify resistance mutations and guide second-line targeted therapies.
9Deep-Dive Assetgenomic deepdive
NextGen LiquidBiopsy 118 Profile
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NextGen LiquidBiopsy 118: Comprehensive ctDNA Profile

118-Gene Comprehensive Solid Tumor & Resistance Mutation Screen

Comprehensive 118-gene liquid biopsy platform designed for multi-organ solid tumor tracking, gene fusions, and emergent resistance mechanism detection.
10Deep-Dive Assetgenomic deepdive
Diagnostic Escalation Funnel
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The Diagnostic Escalation Funnel (PPT Slide 12)

Clinical Exome (₹22,050), Can Exome 360 (₹25,000), Whole Genome (₹95,550)

Defines the clinical triage workflow for escalating from targeted gene panels to whole-exome sequencing (WES) and whole-genome sequencing (WGS) in unresolved clinical presentations.
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Neurological & Metabolic Genomics - Slide 01
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Neurological & Metabolic Genomics Domain Deep-Dive

Dementia, Movement Disorders & Mitochondrial Genetics

Targeted neurological genomic panels investigating hereditary ataxias, early-onset dementias (APOE, PSEN1/2), and inborn errors of metabolism.
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Neurogenetics Mapping - Slide 02
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Mapping Neurogenetics & Undiagnosed Disease Funnel

Comprehensive Exome and Whole Genome Strategies for Neurological Disorders

Diagnostic workflow for investigating complex neurological conditions, pediatric neurodevelopmental delay, and familial channelopathies via clinical exome sequencing.
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ACMG/AMP Reporting Standards - Slide 03
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Methodological Standards: Validated Variant Reporting

ACMG/AMP Output Architecture and Clinical Diagnostic Reporting

Standardized clinical reporting following ACMG/AMP five-tier variant classification criteria (Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign) with curated clinical evidence.

Core Diagnostic Biomarker Axes

Coordinated multi-pathway laboratory parameters evaluated across this biological pillar

Axis 01: Hereditary Cancer Predisposition

30-Gene Deletion & Duplication CNV Panel (BRCA1/2, MLH1, MSH2, TP53)

Axis 02: Comprehensive Multi-Gene Tumor Screening

OncoScreen 360 (317 Genes)

Axis 03: Ultra-Deep ctDNA Liquid Biopsy

OncoTrack Ultima (56 Genes), NextGen LiquidBiopsy (118 Genes)

Axis 04: Diagnostic Escalation Platforms

Clinical Exome (₹22,050), Can Exome 360 (₹25,000), Whole Genome (₹95,550)

Associated Clinical Indicators

Common systemic presentations associated with this pillar:

• Strong family history of breast, ovarian, colon, or prostate cancer• Early age of cancer diagnosis in first-degree relatives (<50 years)• Known solid tumor diagnosis seeking targeted therapy matching• Post-treatment monitoring for minimal residual disease (MRD)
Stage 3: Diagnostic Panel Tier Architecture

Precision Oncology Testing Portfolio & Architecture Guide

Precision Oncology Testing Portfolio Guide
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Diagnostic Comparison ArchitectureCanonical Asset
Reficio provides 5 targeted NGS panels: Hereditary Cancer CNV (₹14,000), OncoScreen 360 (₹17,000), OncoTrack Ultima 57 Gen (₹49,400), NextGen LiquidBiopsy 118 (₹60,000), and Cancerscreen Basic (₹88,500), alongside 3 Diagnostic Escalation Pathways: Clinical Exome (₹22,050), Can Exome 360 (₹25,000), and Whole Genome Sequencing (₹95,550).
Key Included Biomarkers Across Tiers
30-Gene CNV317-Gene OncoScreen56-Gene OncoTrack ctDNA118-Gene LiquidBiopsyClinical ExomeWhole Genome WGS
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Frequently Asked Questions: NGS & Cancer Risk

Clinical considerations in genomic sequencing and precision oncology.

Genomic Counseling Notice:Next-generation sequencing for hereditary cancer risk identifies genetic variants that may confer increased predisposition to specific malignancies. Pre-test and post-test genetic counseling with a certified clinical geneticist or oncologist is strongly recommended to interpret variant pathogenicity (ACMG/AMP classification) and guide familial screening.