Decode your DNA,
Design your care.

NABL-ready lab partners
HIPAA/GDPR-aligned data handling

How Your Genetic Kundli Is Created.

Decoding your DNA in 4 Seamless Steps.

1 Sample & Logistics
DNA sample collection kit for genetic testing saliva or blood

Sample & Logistics – Simple Guide

1. Types of Sample
  • Saliva: 2 ml (simple spit in a tube)
  • Blood: 3–5 ml in EDTA tube (drawn by a nurse or phlebotomist)
2. How to Submit Sample
  • Use the easy collection kit we send you
  • Collect at home or at a clinic
  • Seal, label, and drop in the pre-paid courier bag
  • Smart tracking + cold-chain (if needed) keeps sample safe
3. Privacy & Safety
  • Your consent form (TRF) is mandatory
  • Full chain-of-custody from you to the lab
  • Samples are coded, not named
  • Data protected under strict privacy laws
2 Sequencing & QC
Illumina Next Generation Sequencing machine in lab

Sequencing & QC – Detailed Guide

What is Sequencing?

Sequencing means reading the exact order of the DNA letters (A, T, C, G) in your sample — just like reading a book, one word at a time.

What is QC (Quality Control)?

QC = Quality Checks. It’s like a double-check system at every step to make sure the DNA reading is accurate, complete, and trustworthy before sending results to your doctor.

Step-by-Step: How It Works
Step What Happens Why It Matters
1. DNA Preparation Your sample arrives. DNA is extracted and broken into tiny pieces. Clean DNA = accurate reading.
2. Library Preparation Tags (adapters) added so machines can read DNA. Allows millions of pieces to be read at once.
3. Target Capture Magnetic beads grab only key genes (e.g., BRCA1, TP53). Saves time — skips junk DNA.
4. Sequencing DNA flows in a flow cell. Camera reads colored lights (A=green, etc.). Generates billions of 150-letter reads.
5. QC Checks Computers check clarity, balance, accuracy. Catches errors early.
Key Quality Metrics (We Promise!)
Metric Target What It Means
Uniformity ≥90% All genes read evenly — no missed spots.
On-Target Rate ≥70% Most reads are from intended genes.
Coverage Depth 100x–1000x Each letter read 100–1000 times.
Error Rate <1 in 10,000 Extremely low error chance.

Example: If a gene has a mutation, we need to see it clearly and repeatedly — not just once by chance.

Types of Sequencing We Use
Type What It Covers Best For
Targeted Gene Panel 50–500 cancer genes Fast, affordable, focused
Whole Exome ~22,000 protein-coding genes Broader screening
Hybrid-Capture / Amplicon Two DNA capture methods Both highly accurate
3 Bioinformatics
Bioinformatics pipeline diagram for genomic variant analysis

Bioinformatics – Detailed, Patient-Friendly Guide

What is Bioinformatics?

Bioinformatics = Turning raw DNA data into meaningful health insights.

Think of it like this: Step 2 gave us billions of DNA “words” Step 3 reads them, finds spelling mistakes (mutations), and tells us what they mean for your health.

We use smart computers + expert scientists to do this accurately and fast.

What Does the Pipeline Do?

Our BWA/GATK-class pipeline is the gold standard in clinical genomics — used by top labs worldwide. It’s automated but never fully automatic — every result is reviewed by a human expert.

Step-by-Step: How It Works
Step What Happens Why It Matters
1. Align DNA Reads Billions of short DNA pieces are lined up to the human genome map using BWA (like putting puzzle pieces in place). Ensures we know exactly where each DNA letter belongs.
2. Clean & Refine Fix errors from the machine (e.g., duplicates, misreads) using GATK tools. Removes noise so only real changes remain.
3. Find Variants Look for spelling mistakes (SNPs, indels), missing chunks (CNVs), and rearrangements (SVs). Catches all types of DNA changes, not just small ones.
4. Name Changes Correctly Use HGVS nomenclature — the universal language of genetics (e.g., c.123A>G). Doctors worldwide understand the exact mutation.
5. Pick the Right Transcript Genes have multiple “versions” — we pick the most trusted one (e.g., MANE) using best practices. Avoids confusion — same gene, same meaning.
6. Add Meaning (Annotation) Compare variants to ClinVar (known diseases) and gnomAD (normal population). Tells us: “Is this dangerous, harmless, or unknown?”
Key Features of Our Pipeline
Feature What It Means for You
BWA/GATK-class Same tech as Harvard, Broad Institute, NHS — clinically proven.
CNV/SV Support Detects large deletions, duplications, inversions — critical in cancer.
HGVS Nomenclature Your mutation is written in standard medical code — no ambiguity.
Best-Practice Transcripts We use MANE/RefSeq — the most reliable gene versions.
ClinVar + gnomAD Backed by millions of real patient & healthy DNA samples.
Expert Review A PhD bioinformatician + geneticist checks every report.

Example: From Data to Diagnosis

A instead of G at position 17,234,567 → HGVS: c.35G>A in BRCA1Pathogenic (per ClinVar) → High breast cancer risk

Types of Variants We Detect
Type Example Health Impact
SNV Single letter change Can turn a gene on/off
Indel Small insert/delete May break a protein
CNV Whole gene duplicated/deleted Often linked to cancer
SV Large rearrangement Can fuse two genes
4 Reporting & Genetic Counseling
Sample genetic test report PDF preview

Reporting & Genetic Counseling – Your Final Step

What is Reporting?

Reporting = Turning complex DNA results into a clear, actionable health report — your Genetic Kundli.

It’s the final step where science meets care.

What You Get in Your Report
Feature What It Means for You
Tiered Variants Ranked by importance: Tier 1 (high risk) to Tier 4 (benign)
Actionability Notes Clear next steps (e.g., “start screening”)
Therapy Pointers Personalized drugs (e.g., PARP inhibitors)
Clinical Trials Eligible studies near you (informational)
Re-analysis Free update if science changes meaning
Your Final Report: Genetic Kundli PDF
  • Digital & Secure – Encrypted email
  • Easy to Read – Charts, colors, simple words
  • Evidence-Based – Backed by ClinVar, PubMed, FDA
  • Actionable – Helps your doctor decide
Genetic Counseling – Your Human Guide
What It Is Why It Matters
Pre-Test Counseling Understand risks, benefits, family impact
Post-Test Counseling Explain results, answer fears
Family Planning Implications for children/siblings
Emotional Support Process anxiety, guilt, or relief
Follow-Up Plan Schedule screenings or referrals

Included Free: 1-hour video call with a certified genetic counselor (CGC).

Example: From Variant to Action

BRCA1 pathogenicTier 1 – High RiskMammogram every 6 months + consider preventive options

Comprehensive Disease Panels

Indicative catalogue with enhanced gene coverage & variant detection (2025 Edition). Panels evolve with NCCN, ELN, ACMG, CPIC guidelines. Custom panels available. All panels are 100% DNA-based & NGS-detectable — no IHC required.

Transparent, indication‑based pricing

Pricing varies by assay type, coverage, and add‑ons (CNV, mtDNA, re‑analysis).

Targeted Panel

Solid tumour, hematology, PGx, or hereditary panels.

  • 20–500 genes
  • Report in 2–3 weeks*
  • CNV optional
Get quote
Most selected

Clinical Exome

Solo/Duo/Trio with CNV; ideal for rare disease.

  • ~20,000 genes (medical)
  • Report in 3–4 weeks*
  • Periodic re‑analysis optional
Get quote

Genome / ctDNA

Whole‑genome (selected) or liquid biopsy.

  • SV/non‑coding hotspots (WG)
  • Serial MRD tracking (ctDNA)
  • Bundle with PGx
Discuss needs

*Turnaround times are indicative and may vary by indication and logistics.

Consent, Privacy & Ethics

We follow global standards (GDPR, HIPAA, ACMG, ICMR, NABL) to protect your rights, data, and well-being.

Informed Consent

  • We explain everything in simple words before we start.
  • You can stop or delete your data anytime — no questions asked.
  • We’ll tell you if results may affect your family — gently and clearly.
  • Genetic counseling before and after — like a trusted guide.

Data Privacy

  • Your name is replaced with a secure code. Only you and your doctor know.
  • We use bank-level encryption to protect your information.
  • We keep your data for 10 years to support your future care — but you can delete it anytime.
  • We never share your data without your clear permission.

Ethical Standards

  • Experts review every report carefully — no rush, no mistakes.
  • We only share clear, helpful results — never confusing ones.
  • We follow Indian and global standards (NABL, ICMR, HIPAA) — your safety comes first.
  • Your report is designed to help your doctor care for you better.

Questions? Email us at genetickundli@zohomail.in

Frequently asked questions

Is this a diagnostic test?+

Reports are informational and designed to support clinical conversations. Clinical correlation and confirmatory testing may be required as per guidelines.

Which sample types are accepted?+

Saliva and blood for germline; FFPE tissue or plasma for tumour/ctDNA depending on the assay.

Do you offer re‑analysis?+

Yes, optional periodic reinterpretation as databases and guidelines update.

Contact & Onboarding

Ready to begin? Share your details and our team will coordinate sample logistics and consent.