Sanger Sequencing: Single Variant Test
Short Name: Sanger Single Variant
Also known as: Single Variant Sanger Sequencing, Sanger Sequencing for Single Variant Confirmation, Sanger Sequencing for Known Variant Testing
Sanger Sequencing: Single Variant Test test available at DNA Labs India for ₹14,000. Uses Sanger Sequencing, PCR Amplification on Whole Blood samples. Results in Samples are accepted daily by 9 am. Reports are expected within 30 working days after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to detect or confirm a specific genetic variant in an individual’s DNA. It is particularly useful for confirming variants detected by next-generation sequencing (NGS), checking family members for a known mutation, or identifying a specific variant that is linked to a genetic disorder. This targeted approach helps in diagnosis, carrier testing, and reproductive risk assessment.
- Test Code
- 3617
- Price
- ₹14,000
- Sample Type
- Whole Blood
- Result Time
- Samples are accepted daily by 9 am. Reports are expected within 30 working days after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Sanger Sequencing, PCR Amplification
Sample Collection
No special preparation or fasting is required. Please ensure the Sanger Sequencing Test Requisition Form (Form 38) is duly completed before sample collection.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in your arm into the required lavender top (EDTA) tubes.
Report Delivery
You may resume normal activities immediately. The sample will be transported to the laboratory under refrigerated conditions. Your report will be delivered in approximately 30 working days.
Timeline: Samples are accepted daily by 9 am. Reports are expected within 30 working days after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to detect or confirm a specific genetic variant in an individual’s DNA. It is particularly useful for confirming variants detected by next-generation sequencing (NGS), checking family members for a known mutation, or identifying a specific variant that is linked to a genetic disorder. This targeted approach helps in diagnosis, carrier testing, and reproductive risk assessment.
How to Prepare
- Duly filled Sanger Sequencing Test Requisition Form (Form 38) is mandatory.
- Use 2 Lavender Top (EDTA) tubes and collect 10 mL (5 mL min.) whole blood.
- Ship refrigerated. Do not freeze.
- Label the sample tubes with patient identification details.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is most useful when the exact variant is known in the family. A genetic counsellor can help individuals and families understand the medical, reproductive, and psychological implications of the result."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Inadequate or clotted sample
- Hemolysed or frozen sample
- Sample received in wrong container
- Missing or incomplete requisition form
- Unlabeled or mislabeled sample
Understanding Your Results
Negative / No variant detected
The specific variant requested was not found in this individual's DNA. This does not exclude the possibility of another genetic cause.
Heterozygous
One copy of the variant is present. Clinical significance depends on the variant and the inheritance pattern of the condition.
Homozygous
Two copies of the variant are present, which may be associated with an autosomal recessive disorder.
Hemizygous
One copy of the variant is present on the X chromosome in males; interpretation depends on the condition and family history.
Variant of Uncertain Significance (VUS)
If a different sequence alteration is detected at the tested region, further family studies and functional evidence may be needed.
You should consult your referring physician or a clinical geneticist to understand your result, its inheritance pattern, and its implications for you and your family members. Genetic counseling is recommended before undergoing predictive, carrier, or prenatal genetic testing.
Limitations
- ⚠Only the specific variant requested is analysed; other variants are not detected.
- ⚠Large deletions, duplications, repeat expansions, and structural rearrangements may not be identified by standard Sanger sequencing.
- ⚠A negative result does not rule out another genetic cause for the condition.
- ⚠The exact variant must be specified before testing.
- ⚠Results should be interpreted in the context of clinical and family history.
Risks & Considerations
- ●Slight bruising or soreness at the needle site
- ●Dizziness or lightheadedness during or after blood collection
- ●Rare risk of local infection, which can be minimized by proper sterile technique
Interfering Factors
- ●Sample contamination
- ●Degraded or insufficient DNA
- ●Incorrect sample collection tube
- ●Delayed transport or improper storage
- ●Incomplete or missing requisition form
Compare With Similar Tests
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Frequently Asked Questions
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