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Clinical · Molecular Diagnosis
Sanger Method · Single Gene · Variant Confirmation

Targeted Sanger Sequencing

Gold-Standard Single Gene / Variant Confirmation. The Most Trusted DNA Sequencing Method.

Targeted Sanger Sequencing is the gold-standard technique for reading the exact DNA sequence of a specific gene or region of interest. First developed in 1977 and still the most trusted method for confirming genetic variants, Sanger sequencing uses dideoxy chain termination to produce highly accurate, base-by-base sequence reads of targeted DNA regions. It is the method of choice for confirming variants identified by NGS testing, sequencing known hotspot mutations in a specific gene, validating family member carrier status for a known familial variant, and providing definitive diagnosis when a specific genetic cause is strongly suspected.

★★★★★
5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood (EDTA)
Turnaround
2–3 weeks
Target
Single gene / region
Technology
Sanger Sequencing
Targeted Sanger Sequencing
When is Targeted Sanger Sequencing used?
NGS Variant Confirmation
Variants identified by Whole Exome or Genome Sequencing must be confirmed by Sanger before clinical reporting — the gold-standard validation step
Family Member Cascade Testing
When a specific variant is found in a patient, Sanger testing of family members quickly confirms or rules out the same variant in relatives
Known Hotspot Mutations
When a specific mutation is highly suspected based on clinical features — Sanger directly reads that gene region with high accuracy and low cost
Single Gene Diagnosis
When clinical presentation strongly points to a specific single-gene condition — Sanger sequences the gene directly without a broad panel
What you'll discover

Exact DNA sequence

Base-by-base sequence read of the targeted gene region — the most accurate way to read a specific DNA segment

>99.9% accuracy

Variant confirmation

Confirms or rules out a specific variant previously identified by NGS testing — eliminates false positives

Validated result

Mutation classification

Pathogenic, likely pathogenic, VUS, or benign — clinically actionable classification of the identified variant

ACMG classification

Family carrier status

Rapid, affordable testing of parents, siblings, or children for a known familial variant

Cascade testing

Clinician-ready report

Electropherogram trace + written report with variant interpretation — ready for medical records and specialist review

Full documentation

Cost-effective

Most affordable clinical sequencing option — targeted approach means lower cost than broad panel testing

₹5,000 only
How it works
1

Order + specify target gene

Place your order and mention the gene or variant to be sequenced — include your doctor's referral or previous NGS report so our team can design the right primers.

2

Blood sample collection

2–3ml EDTA blood at home or nearby lab. Return with prepaid courier label included in your kit.

3

DNA extraction + PCR amplification

Target region amplified by PCR using gene-specific primers, then sequenced using Sanger dideoxy chain termination chemistry on an ABI capillary sequencer in our NABL & CAP lab.

4

Electropherogram analysis

Sequencing results analyzed by our molecular geneticist — colored peak electropherogram reviewed base-by-base and variant classified per ACMG guidelines.

5

Report in 2–3 weeks

Comprehensive report including electropherogram trace, variant classification, clinical significance, and recommendation for family testing if applicable.

Sample report preview

Your Targeted Sanger Sequencing Report

A snapshot of your single-gene variant confirmation report

Gene Sequenced
BRCA1
Exon 11 targeted
Variant Identified
c.5266C>T
Confirmed by Sanger
Classification
Pathogenic
ACMG Class 5
Accuracy
>99.9%
Gold-standard method
Electropherogram trace
Bidirectional sequencing
ACMG variant classification
Clinical significance
Family testing recommendation
Clinician-ready PDF
Frequently asked questions
Why is Sanger sequencing still the gold standard?
Sanger sequencing, developed in 1977, remains the gold standard for single-gene and single-variant analysis because of its exceptional accuracy (over 99.9%) and ability to read individual base pairs clearly as a colored electropherogram — making it easy to visually verify each base. While NGS can sequence thousands of genes simultaneously, Sanger is still the method of choice for targeted validation of specific variants, as it is unaffected by the coverage variability and bioinformatics complexities that can affect NGS results.
What information do I need to provide when ordering?
Please provide the gene name and ideally the specific exon or variant to be sequenced — this allows our team to design the correct primers. If this is a confirmation of an NGS result, please share the previous NGS report. If this is a family cascade test, share the proband's (affected family member's) variant details. If you are unsure, our Genomic Expert team will contact you after ordering to collect this information before sample processing begins.
What is the difference between Sanger and NGS?
NGS (Next Generation Sequencing) sequences hundreds to thousands of genes simultaneously — ideal for broad diagnostic panels. Sanger sequences a single gene or small region — ideal for confirming a specific known variant, family cascade testing, or when one gene is strongly suspected. NGS is more powerful for discovery; Sanger is more accurate and cost-effective for confirmation. In modern genetics, both work together — NGS discovers, Sanger confirms.
Can this test detect all types of mutations?
Sanger sequencing accurately detects single nucleotide variants (SNVs), small insertions, and small deletions within the targeted region. It does not detect large deletions, duplications, or copy number variants — these require MLPA or CMA. It also cannot detect intronic variants or regulatory region variants unless specifically targeted. Sanger is best used when you know what specific variant to look for, rather than for broad discovery screening.
Is my data safe?
Yes. All data is protected under ISO 27001, HIPAA, and GDPR standards. Never shared with insurance companies, employers, or third parties without your consent.
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🧬 Clinical Genomics · Variant Confirmation
₹5,000
  • Single gene / variant targeted sequencing
  • Bidirectional Sanger sequencing
  • Electropherogram trace included
  • ACMG variant classification
  • NABL & CAP accredited lab
  • Family cascade testing supported
Please note: Mention the gene name & variant or attach your previous NGS report in the notes after ordering. Our team will contact you to confirm target region before processing.
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 2–3 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Available
Our Genomic Expert will help you identify the correct target gene/variant and interpret results in context of your clinical history.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

Sanger Method

Gold standard since 1977

>99.9% Accuracy

Single variant precision

ISO 27001

Data security

100% Private

GDPR compliant

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Before or after Targeted Sanger Sequencing

Broader scope
Whole Exome Sequencing

If the causative gene is unknown, WES sequences all 23,000 protein-coding genes to identify the variant — then Sanger confirms it. The discovery step before targeted confirmation.

₹26,000
Chromosomal
Chromosomal MicroArray

When large deletions or duplications are suspected rather than point mutations — CMA detects copy number variants that Sanger cannot identify.

₹15,000
BRCA specific
BRCA 1 & 2 Fullgene Sequencing

For comprehensive BRCA analysis — full gene NGS sequencing of both BRCA1 and BRCA2 rather than targeted single-variant Sanger confirmation.

₹15,000

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