NDUFS4 Gene Leigh syndrome NGS Genetic Test
Short Name: NDUFS4 NGS Genetic Test
Also known as: NDUFS4 Gene Sequencing, Leigh Syndrome NGS Panel, Mitochondrial Complex I Deficiency Test
NDUFS4 Gene Leigh syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically issued within 4 weeks after the sample is received by 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 this NGS genetic test is to detect pathogenic mutations in the NDUFS4 gene and other genes associated with Leigh syndrome. This helps confirm a clinical diagnosis, guide treatment decisions, assess recurrence risk in families, and inform genetic counselling.
- Test Code
- 4172
- ICD Code
- G31.81
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically issued within 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A clinical history of the patient and a genetic counselling session to draw a pedigree chart of family members affected with Leigh syndrome is recommended before the test.
Method: Venipuncture or Dried Blood Spot
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist using venipuncture. Alternatively, a few drops of blood can be placed on an FTA card. Extracted DNA samples are also accepted.
Report Delivery
No special precautions are needed after sample collection. The sample will be transported to the laboratory for processing. You will receive the report within 3 to 4 weeks.
Timeline: Reports are typically issued within 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the NDUFS4 gene and other genes associated with Leigh syndrome. This helps confirm a clinical diagnosis, guide treatment decisions, assess recurrence risk in families, and inform genetic counselling.
How to Prepare
- Blood should be collected in an EDTA vacutainer.
- FTA card: apply one drop of blood on each circle, dry horizontally, and pack in the provided envelope.
- Extracted DNA: send at least 5 μg in a sterile vial with proper labeling.
- Label the sample with patient's name, date of birth, and test code.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A negative genetic test does not exclude Leigh syndrome; if clinical suspicion remains, further testing such as whole exome sequencing may be considered."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood
- Insufficient sample quantity
- Improper labeling or missing requisition form
- Sample transported at incorrect temperature
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Action: Confirms genetic diagnosis. Genetic counselling and family cascade testing are recommended.
No mutation detected
Action: Does not rule out Leigh syndrome. Consider alternative genetic causes or non-genetic etiologies.
Variant of uncertain significance (VUS)
Action: Further analysis, segregation studies, and expert consultation may clarify clinical significance.
If this test returns a positive result, consult a neurologist and a clinical geneticist for specialized management. If the result is negative but symptoms persist, discuss additional diagnostic options with your physician.
Limitations
- ⚠NGS may not detect all types of mutations such as deep intronic variants, large structural variants, or trinucleotide repeat expansions
- ⚠A negative result does not exclude Leigh syndrome caused by mutations in genes not included in this panel
- ⚠Variants of uncertain significance may require further family studies
Risks & Considerations
- ●Minimal risk of bruising or discomfort at the blood collection site
- ●Potential psychological impact of receiving a genetic diagnosis
Interfering Factors
- ●Low DNA yield or degraded DNA
- ●PCR inhibitors in the sample
- ●Maternal cell contamination in prenatal samples
- ●Presence of large deletions or duplications not detectable by NGS alone
Compare With Similar Tests
| Test | NDUFS4 Gene Leigh syndrome NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | NDUFS4 Gene Leigh syndrome NGS Genetic Test |
Frequently Asked Questions
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