NDUFS3 Gene Leigh syndrome NGS Genetic Test
Short Name: NDUFS3 Gene NGS Test
Also known as: NDUFS3 Leigh Syndrome NGS Test, NDUFS3 Gene Mutation Analysis, Complex I Deficiency Genetic Test, Leigh Syndrome Targeted Gene Test
NDUFS3 Gene Leigh syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to identify pathogenic variants in the NDUFS3 gene that cause Leigh syndrome. It helps confirm a clinical diagnosis, guides prognosis and management, supports carrier detection in at-risk family members, and enables recurrence risk counselling.
- Test Code
- 4175
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing Confirmation
Sample Collection
No fasting is required. Please bring the patient's clinical history, previous investigation reports, and any available family pedigree to the genetic counselling session.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample in an EDTA tube. Alternatively, a one-drop blood sample may be collected on an FTA card. For home collection, the sample will be collected at your preferred address.
Report Delivery
The patient can resume normal activities immediately. If a blood draw was performed, apply pressure to the puncture site for a few minutes. The sample will be transported to the laboratory for analysis.
Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic variants in the NDUFS3 gene that cause Leigh syndrome. It helps confirm a clinical diagnosis, guides prognosis and management, supports carrier detection in at-risk family members, and enables recurrence risk counselling.
How to Prepare
- Use EDTA tube for whole blood collection
- For FTA card, allow the blood spot to dry completely before packing
- Label the sample clearly with patient name, unique ID, and date of collection
- Transport blood samples to the laboratory within 48 hours at ambient temperature
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic confirmation is essential for accurate recurrence risk counselling and for enabling earlier supportive management in affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Samples with visible clots or severe hemolysis
- Insufficient sample volume
- Unlabelled or mislabelled sample
- Sample delivered to the laboratory after 72 hours without proper storage
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was identified in the NDUFS3 gene. Leigh syndrome may still be caused by variants in other mitochondrial or nuclear genes.
Positive
A pathogenic or likely pathogenic variant is detected in NDUFS3, confirming the genetic diagnosis of NDUFS3-related Leigh syndrome.
Carrier
One pathogenic recessive variant is detected in an asymptomatic individual, confirming carrier status.
Variant of Uncertain Significance (VUS)
A variant is present but its disease association is unclear. Additional family segregation studies may be recommended.
Consult a neurologist or clinical geneticist if the child shows developmental regression, hypotonia, seizures, unexplained metabolic acidosis, or if there is a family history of Leigh syndrome.
Limitations
- ⚠NGS may not detect large deletions, duplications, or structural rearrangements
- ⚠Deep intronic variants and certain regulatory region variants may not be identified
- ⚠A negative result does not exclude Leigh syndrome caused by other nuclear or mitochondrial genes
- ⚠Low-level somatic mosaicism may not be detected
- ⚠A variant of uncertain significance may require additional family studies
Risks & Considerations
- ●Bruising or pain at the needle site
- ●Rare bleeding or infection after venipuncture
- ●No significant risk from FTA card blood spot collection
Interfering Factors
- ●Clotted or hemolyzed blood sample
- ●Insufficient DNA quality or quantity
- ●Contamination during sample collection
- ●Recent haematopoietic stem cell transplant or blood transfusion can affect germline results
- ●Patient identity mismatch or mislabelled sample
Compare With Similar Tests
| Test | NDUFS3 Gene Leigh syndrome NGS Genetic Test | ||
|---|---|---|---|
| Comparison | NDUFS3 Gene Leigh syndrome NGS Genetic Test |
Frequently Asked Questions
What is the NDUFS3 gene Leigh syndrome NGS genetic test?
What is the cost of the NDUFS3 gene Leigh syndrome NGS test at DNA Labs India?
What is Leigh syndrome?
What are the common symptoms of Leigh syndrome?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get the report?
Will I receive raw data files with the clinical report?
Can this test detect carriers of NDUFS3 mutations?
Is genetic counselling needed before this test?
How is this test performed?
In which cities is home sample collection available?
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