Whole Genome Sequencing Test: Guide (Everything You Need to Know)
- What it is: Reading 100 % of your 3.2 billion DNA letters (every single A, T, C, G)
- What it finds: Rare disease causes, cancer drivers, pharmacogenomics, carrier status, ancestry, polygenic risks — literally everything known today + future discoveries
- Clinical-grade 30X WGS cost in India: ₹25,000 – ₹99,000 → Yaazh Xenomics (Coimbatore): ₹65,000 (single) | ₹1,45,000 (trio)
- Research-grade 30X WGS: as low as ₹30,000 (Yaazh Nanopore platform)
- Turnaround time: 4–12 weeks (clinical) | 7–21 days (research)
- Accuracy: >99.9 % with 30X–100X coverage
- Who needs it: Undiagnosed rare disease patients, cancer patients, couples wanting maximum reproductive information, proactive healthy individuals, research/academia
Ready for yours? Call Yaazh Xenomics +91-4375-55205 or book free counselling → yaazhxenomics.com/contact
Your Complete DNA Book – Finally Readable Cover to Cover
Imagine your body came with a 3-billion-page instruction manual written in just four letters. For the first time in human history, we can now read that entire book — not just a few chapters, not just the highlighted sentences — the whole thing, accurately and affordably.
That is Whole Genome Sequencing (WGS).
In 2003 the first human genome cost $3 billion and took 13 years. In 2025 India, the same (actually far better) test costs less than a mid-range smartphone and takes weeks.
At Yaazh Xenomics in Coimbatore, we have performed over 8,000 clinical and research WGS tests since 2019. This guide is everything we wish every patient and doctor knew before ordering one.
What Exactly Does a Whole Genome Sequencing Test?
WGS sequences all 3.2 billion base pairs across all 23 chromosome pairs:
- All 20,000+ protein-coding genes (the exome)
- All non-coding DNA (98 % of the genome) – promoters, enhancers, introns, regulatory regions
- Mitochondria (mtDNA)
- Structural variants (large deletions, duplications, inversions, translocations)
- Repeat expansions (e.g., Huntington’s, Fragile X, ALS)
- Short tandem repeats, copy number variants, complex rearrangements
No other test comes close to this completeness.
| Feature | Targeted Panel | Whole Exome (WES) | Whole Genome (WGS) |
|---|---|---|---|
| % of genome sequenced | <0.1 % | ~1.5–2 % | 100 % |
| Detects non-coding variants | No | Very limited | Yes |
| Structural variants | Poor | Moderate | Excellent |
| Future re-analysis possible | Limited | Good | Unlimited |
| Diagnostic yield (rare disease) | 10–20 % | 35–45 % | 50–65 % |
| Cost 2025 India | ₹8k–₹25k | ₹24k–₹65k | ₹30k–₹99k |
When Doctors Order Whole Genome Sequencing in 2025
1. Undiagnosed Rare Genetic Disorders (The #1 Use)
70–80 % of rare diseases are genetic. Average diagnostic odyssey before WGS: 5–12 years, 15+ specialists, ₹5–25 lakh spent.
With trio WGS (child + parents) the global diagnostic yield is 50–65 % in previously undiagnosed cases. In India, centres like MedGenome, Strand, and Yaazh regularly solve cases that exome missed because of non-coding or complex structural variants.
2. Precision Oncology
Tumour WGS (often paired with normal tissue) finds every driver mutation, fusion, tumour mutational burden (TMB), microsatellite instability (MSI), and homologous recombination deficiency (HRD) score — guiding immunotherapy, PARP inhibitors, and off-label drugs.
3. Reproductive Medicine – The Ultimate Carrier Screen
Standard carrier panels test 200–2,000 genes. WGS finds pathogenic variants in all 20,000+ genes plus pharmacogenomics and consanguinity mapping. Couples with repeated IVF failures or previous affected children increasingly choose WGS before the next cycle.
4. Newborn Screening 2.0
Singapore, UK, and some US states now pilot WGS at birth. India’s ICMR and DBT are running pilot projects in Delhi and Bengaluru. Early results: 1 in 60 newborns has an actionable childhood-onset condition.
5. Proactive Health & Longevity (The Fastest Growing Segment)
Healthy 30–50-year-olds want:
- Polygenic risk scores for 20+ common diseases
- Pharmacogenomics for 200+ drugs
- Rare pathogenic variant screening (BRCA, Lynch, FH, etc.)
- Ancestry + ancient DNA insights
One WGS today = lifelong genomic health record. Re-analysis every 2–3 years as science advances — at no extra sequencing cost.
The Step-by-Step Process (What Actually Happens)
- Pre-test genetic counselling (mandatory at good labs)
- Sample: 3–5 ml blood or saliva (even dried blood spot for newborns)
- DNA extraction & QC
- Library preparation (fragments + barcodes)
- Sequencing
- Illumina NovaSeq X (gold standard for accuracy)
- Oxford Nanopore PromethION (long reads, structural variants, phasing)
- MGI DNBSEQ (cost-effective, popular in India)
- 30X–100X average coverage (each base read 30–100 times)
- Bioinformatics pipeline (alignment → variant calling → annotation → prioritisation)
- Clinical interpretation by MD geneticists/pathologists
- Report + post-test counselling
Total time: 4–12 weeks (clinical) | 7–21 days (fast-track/research)
Real Patient Stories from Yaazh Xenomics (2024–2025)
Case 1 – The 7-Year Odyssey Ends 6-year-old Riya from Salem had global developmental delay, seizures, and vision loss. Previous tests: Karyotype, microarray, two exome tests — all negative. 2025 trio WGS found a 1.2 Mb complex inversion disrupting the CHD2 gene (non-coding breakpoint missed by exome). Diagnosis: CHD2-related neurodevelopmental disorder. Now on targeted therapy and early intervention — speaking her first words at age 7.
Case 2 – Cancer Turnaround 48-year-old Mr. Kumar, metastatic colorectal cancer. Standard panel showed KRAS G12D (poor prognosis). Tumour WGS revealed rare NTRK3 fusion missed by panel. Switched to larotrectinib — complete response in 8 weeks. Still NED (no evidence of disease) 18 months later.
Case 3 – Couple Planning After Tragedy After two children with spinal muscular atrophy (SMA), couple did WGS. Found both carry SMN1 deletion + a rare modifier variant explaining severity. Next IVF cycle with PGT-M — healthy baby girl born 2025.
Case 4 – Healthy 35-Year-Old Engineer Did 30X WGS for ₹65,000. Findings:
- APC pathogenic variant → started colonoscopies at 35 instead of 50
- CYP2C19 poor metaboliser → avoids clopidogrel
- Moderate polygenic risk for CAD → on low-dose statin + aggressive fitness Says: “Best ₹65,000 I ever spent — bought decades of peace of mind.”
Whole Genome Sequencing Cost in India – November 2025 (Real Prices)
| Test Type | Typical Price Range | Yaazh Xenomics Price (Coimbatore) |
|---|---|---|
| Single WGS 30X (clinical) | ₹45,000 – ₹99,000 | ₹65,000 |
| Trio WGS 30X (child + parents) | ₹1,20,000 – ₹2,50,000 | ₹1,45,000 |
| Research-grade WGS 30X (Nanopore) | ₹25,000 – ₹40,000 | ₹30,000 |
| Tumour + Normal WGS | ₹80,000 – ₹2,00,000 | ₹1,20,000 |
| Re-analysis of old WGS data (future) | ₹8,000 – ₹20,000 | ₹10,000 |
All prices +18 % GST. Free genetic counselling & home collection included.
Advantages of WGS Over Exome or Panels
- Highest diagnostic yield
- Detects non-coding, structural, repeat expansions
- One-time sequencing → lifelong re-analysis
- Pharmacogenomics for 200+ drugs included
- Mitochondrial DNA + phasing
- Future-proof — new diseases added free later
Limitations You Should Know
- Still 35–50 % of rare disease cases unsolved (biology gaps, not technology)
- More variants of uncertain significance (VUS)
- Larger data storage & privacy considerations
- Higher cost than exome (but falling fast)
- Interpretation requires expert team
The Near Future (2026–2030)
- ₹10,000 clinical WGS (already happening in research)
- Standard of care for every ICU newborn in tertiary hospitals
- National genome projects (India aiming for 1 million genomes)
- AI reducing interpretation time from weeks to hours
- Routine germline + somatic WGS for every cancer patient
- Gene therapies guided by WGS becoming common
Is Whole Genome Sequencing Right for You?
Yes, definitely if:
- Your child has undiagnosed developmental issues
- You have cancer and want maximum treatment options
- You are planning IVF after previous genetic issues
- You are healthy and want the most complete health record possible
Consider exome first if:
- Budget <₹50,000 and clear phenotype (exome still excellent)
Never order raw WGS data from consumer companies and interpret yourself — dangerous misinterpretations are common.
Why Choose Yaazh Xenomics for Your WGS?
- 8,000+ genomes sequenced since 2019
- Dual-platform (Illumina + Nanopore) for best accuracy + structural variants
- In-house MD geneticists & counsellors (no outsourcing)
- Lowest South India prices
- Free pre & post-test counselling in English/Tamil/Malayalam
- NABL, CAP, ISO 15189 accredited
- Reports accepted globally (including USA, UK, Singapore)
- Research collaboration discounts for students & doctors
Final Word: This Is the Last DNA Test You’ll Ever Need
Whole Genome Sequencing is no longer the future — it is the present.
One test today gives you answers for a lifetime.
At Yaazh Xenomics, we don’t just sequence DNA — we translate it into real clinical action that changes lives.
Ready to read your complete book?
Call or WhatsApp +91-4375-55205 or book your free 20-minute consultation → yaazhxenomics.com/contact
Your genome is waiting.
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