MT-ND3 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
Short Name: MT-ND3 NGS Genetic Test
Also known as: MT-ND3 gene mutation test, Leigh syndrome NGS test, Mitochondrial complex I deficiency genetic test
MT-ND3 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) for MT-ND3 gene, Sanger confirmation of reported variants on Blood or Extracted DNA or Dried Blood on FTA Card samples. Results in The final report, including raw data files, will be delivered within 3 to 4 weeks after the sample reaches 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 purpose of the MT-ND3 gene NGS genetic test is to detect pathogenic variants in the MT-ND3 gene that are associated with Leigh syndrome and mitochondrial complex I deficiency. This test helps confirm a clinical diagnosis, guide prognosis and management, identify carrier or affected family members, and provide information for reproductive decision-making. NGS technology allows simultaneous analysis of the MT-ND3 gene with high sensitivity and specificity, including detection of low-level mitochondrial heteroplasmy.
- Test Code
- 4179
- CPT Code
- Not specified
- ICD Code
- G31.81
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or Dried Blood on FTA Card
- Result Time
- The final report, including raw data files, will be delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS) for MT-ND3 gene, Sanger confirmation of reported variants
Sample Collection
No special preparation is needed. However, a clinical history of the patient and a genetic counselling session to draw a pedigree chart of affected family members are recommended before the test.
Method: Peripheral blood draw / FTA card prick
Laboratory Analysis
Peripheral blood will be collected by a trained phlebotomist, or a few drops of blood may be collected on an FTA card for home collection. The procedure is quick and minimally invasive.
Report Delivery
No restrictions are required after sample collection. The sample should be transported to the laboratory at ambient room temperature (for FTA card) or as per instructions provided with the collection kit.
Timeline: The final report, including raw data files, will be delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MT-ND3 gene NGS genetic test is to detect pathogenic variants in the MT-ND3 gene that are associated with Leigh syndrome and mitochondrial complex I deficiency. This test helps confirm a clinical diagnosis, guide prognosis and management, identify carrier or affected family members, and provide information for reproductive decision-making. NGS technology allows simultaneous analysis of the MT-ND3 gene with high sensitivity and specificity, including detection of low-level mitochondrial heteroplasmy.
How to Prepare
- If using blood, collect in an EDTA vacutainer (2-3 ml).
- For FTA card, apply a few drops of blood onto the designated circles and allow to air dry.
- Label the sample clearly with patient’s name, date of birth and collection date.
- Transport the sample to DNA Labs India within 24-48 hours at ambient temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Accurate molecular diagnosis of Leigh syndrome is crucial for family counselling, recurrence risk assessment and management planning. NGS-based testing of the MT-ND3 gene helps identify pathogenic variants in the mitochondrial genome with high sensitivity."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Sample received without proper label or requisition form
- Clotted blood sample
- Improperly stored FTA card (exposed to moisture or heat)
Understanding Your Results
Pathogenic or likely pathogenic variant detected in MT-ND3 gene
Confirms a molecular diagnosis of Leigh syndrome due to mitochondrial complex I deficiency.
No pathogenic variant detected
Makes MT-ND3-related Leigh syndrome less likely; however, other genetic causes may still exist.
Variant of uncertain significance (VUS) detected
Further family studies and functional investigations are recommended to clarify pathogenicity.
Heteroplasmic variant detected at low level
Correlation with phenotype is required; may cause variable expression and penetrance.
Consult your doctor or a clinical geneticist if you notice symptoms such as unexplained seizures, developmental regression, hypotonia, feeding difficulties, breathing abnormalities, or loss of motor skills in a child. Early diagnosis and genetic counselling are important for management and family planning.
Limitations
- ⚠This test detects variants in MT-ND3 gene only; other mitochondrial and nuclear genes causing Leigh syndrome are not covered
- ⚠Detection of large deletions or rearrangements may require additional methods
- ⚠Negative result does not completely rule out mitochondrial disease; further testing may be needed
- ⚠Heteroplasmic variants below test sensitivity may not be identified
- ⚠Variant interpretation may change as new clinical data become available
Risks & Considerations
- ●No significant physical risks: the test requires a simple blood draw or finger prick.
- ●Possible emotional and psychological impact of receiving genetic results.
- ●Potential uncertainty from variants of unknown significance.
- ●Risk of family-related ethical issues when genetic diagnosis is established.
Interfering Factors
- ●Contamination of sample with maternal DNA if blood sample is from a child
- ●Low-level heteroplasmy may be below the detection limit of NGS
- ●Recent blood transfusion may affect DNA analysis if using blood sample
- ●Use of non-validated sample collection method
Compare With Similar Tests
| Test | MT-ND3 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test | MT-ND3 NGS Genetic Test | Leigh Syndrome NGS Panel | Mitochondrial Genome Sequencing |
|---|---|---|---|---|
| Comparison | MT-ND3 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test |
Frequently Asked Questions
What is the MT-ND3 gene and why is it tested in Leigh syndrome?
How much does the MT-ND3 NGS genetic test cost in India?
What kind of sample is needed for this test?
Does the test require fasting?
What is the turnaround time for reports?
Will I receive raw data files along with the clinical report?
Can this test detect heteroplasmic mitochondrial mutations?
Does a negative result rule out Leigh syndrome?
Is genetic counselling a part of the test?
Can a pregnant woman undergo this test for prenatal diagnosis?
What is the detection rate of MT-ND3 mutation in Leigh syndrome?
Do I need to provide the family history?
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