Sanger Sequencing

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What is Sanger Sequencing?

Sanger sequencing is a highly accurate (99.9%) "gold standard" used to verify a specific genetic change (variant) identified during initial genetic screening, typically via NGS-based testing. Unlike large gene panels or whole exome tests, this is a targeted test. It focuses only on the exact DNA location where a variant has already been detected. The purpose is not to discover new mutations, but to confirm whether the reported variant is truly present and correctly identified

Common Use Cases

  • Familial Genetic Testing: Confirming if a relative has a known hereditary mutation.
  • Oncology: Testing for specific mutations to inform treatment.
  • Validation: Validating variants found by NGS.

What Does a Single-Variant Sanger Test Confirm?

A Sanger Sequencing test confirms:
  • 1. The presence or absence of a specific genetic mutation
  • 2. Whether the variant is heterozygous or homozygous
  • 3. The exact nucleotide change in the DNA sequence

This confirmation is significant when a variant is classified as:

  • 1. Pathogenic
  • 2. Likely pathogenic
  • 3. Clinically actionable

Who Should Consider a Sanger Sequencing Variant Confirmation Test?

This test is recommended for:
  • 1. Individuals with abnormal or positive NGS results.
  • 2. Patients undergoing evaluation for inherited genetic conditions.
  • 3. Families with known disease-causing mutations.
  • 4. Clinicians seeking definitive confirmation before diagnosis.
  • 5. Individuals planning family screening or genetic counseling.

Test Specification

Variant type

Single-nucleotide variants (SNVs) , Small insertions and deletions (indels), Variants within specific gene regions

Sample type

Requires a peripheral blood sample collected in EDTA, ensuring high-quality DNA extraction for accurate and reliable genetic analysis.

TAT

Results are delivered within approximately 14 days, providing timely insights to support clinical decision-making and further genetic evaluation.

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Why choose OneDNA

Comprehensive Coverage

Comprehensive testing across both molecular and cytogenetic platforms

Accredited Laboratories

NABL & CAP accredited lab

Support & Care

End-to-end support including genetic counselling and report guidance.

Early & Accurate

High accuracy with advanced technologies and stringent quality controls

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Frequently Asked Questions

It is used across multiple areas, including: Inherited genetic disorders Hereditary cancers Targeted mutations in oncology Family-based genetic testing

Heterozygous → Variant present in one copy of the gene Homozygous → Variant present in both copies

Yes, especially for specific known mutations in genes linked to hereditary cancers. It ensures that critical findings are confirmed before acting on them.

That’s completely normal. Genetic results can be complex, which is why expert guidance and counseling are important to interpret what it means for you.

Yes,especially when: A specific gene is already suspected A variant has been previously identified It provides clear, definitive answers in rare disease diagnosis.

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