NDUFS8 Gene Leigh syndrome NGS Genetic Test
Short Name: NDUFS8 Leigh Syndrome NGS
Also known as: NDUFS8 Gene Sequencing, NDUFS8-Related Leigh Syndrome Genetic Test
NDUFS8 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 Test reports are generally available 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
To identify pathogenic variants in the NDUFS8 gene associated with Leigh syndrome and guide clinical diagnosis, management, and genetic counselling.
- Test Code
- 4176
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or one drop blood on FTA card
- Result Time
- Test reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is needed. Please provide relevant clinical history, and if possible, a pedigree chart of family members affected with similar symptoms.
Method: Blood draw or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect a small blood sample. For FTA card collection, one drop of blood is applied to the FTA card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. Minor bruising or discomfort at the blood draw site may occur but usually resolves quickly.
Timeline: Test reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the NDUFS8 gene associated with Leigh syndrome and guide clinical diagnosis, management, and genetic counselling.
How to Prepare
- No fasting required.
- Inform the laboratory about clinical symptoms and family history.
- Please carry a valid ID and any previous medical records.
- For home collection, keep the sample at ambient temperature until pickup.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For families affected by NDUFS8-related Leigh syndrome, genetic counselling is essential to understand recurrence risk, reproductive options, and prenatal testing possibilities."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabeled or improperly labeled sample
- Insufficient blood or DNA quantity
- Sample received in a broken, leaking, or contaminated container
Understanding Your Results
Pathogenic variant detected in NDUFS8 gene
Supports a diagnosis of Leigh syndrome caused by NDUFS8 mutation.
No pathogenic variant detected
Does not exclude Leigh syndrome, as other nuclear or mitochondrial genes may be involved.
Variant of uncertain significance
Further segregation analysis, functional studies, or additional testing may be recommended.
Consult a neurologist or clinical geneticist if you or your child has developmental delay, unexplained weakness, breathing difficulty, seizures, motor regression, or visual/hearing impairment.
Limitations
- ⚠NGS may not detect large genomic rearrangements, deep intronic variants, or repeat expansions in all cases.
- ⚠A negative result does not exclude all genetic causes of Leigh syndrome.
- ⚠Variants of uncertain significance may require further family studies or functional testing.
- ⚠This test does not measure mitochondrial enzyme activity or other biochemical markers.
Risks & Considerations
- ●Minimal risk of bruising at the blood draw site
- ●Slight discomfort during phlebotomy
- ●Possible psychological impact of receiving genetic results
Interfering Factors
- ●Poor quality or degraded DNA
- ●Contamination during sample collection or processing
- ●Sample mislabeling or mix-up
- ●Recent allogeneic bone marrow transplant may affect blood-based DNA test results
Compare With Similar Tests
| Test | NDUFS8 Gene Leigh syndrome NGS Genetic Test | ||
|---|---|---|---|
| Comparison | NDUFS8 Gene Leigh syndrome NGS Genetic Test |
Frequently Asked Questions
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