NDUFAF2 Gene Leigh syndrome NGS Genetic Test
Short Name: NDUFAF2 NGS
Also known as: NDUFAF2 mutation analysis, NDUFAF2 gene sequencing, Leigh syndrome NGS genetic test, Complex I assembly factor 2 gene test
NDUFAF2 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 3 to 4 weeks. 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
A definitive genetic diagnosis helps clinicians confirm NDUFAF2-related Leigh syndrome, provide targeted symptom management, and inform family counseling and recurrence risk.
- Test Code
- 4169
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counseling session is recommended before testing to document family history and draw a pedigree chart.
Method: Venipuncture or FTA blood spot
Laboratory Analysis
A small blood sample is collected by venipuncture, or a few drops of blood are placed on an FTA card. For extracted DNA samples, no patient procedure is required.
Report Delivery
The patient can resume regular activities immediately. The sample is transported to the laboratory and results are expected within 3 to 4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
A definitive genetic diagnosis helps clinicians confirm NDUFAF2-related Leigh syndrome, provide targeted symptom management, and inform family counseling and recurrence risk.
How to Prepare
- Blood should be collected in an EDTA vacutainer
- Do not freeze whole blood
- FTA card should be air-dried and placed in a sterile envelope
- The sample must be labeled with patient name, unique ID, and date of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling and pedigree assessment are essential before ordering a Leigh syndrome gene panel. A positive result helps guide recurrence risk counseling and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabeled sample
- Insufficient sample volume
- Hemolyzed or clotted blood
- Sample received more than 7 days after collection
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant in NDUFAF2 confirms the molecular diagnosis of NDUFAF2-related Leigh syndrome.
Negative
No pathogenic NDUFAF2 mutation was detected. This does not exclude Leigh syndrome if clinical suspicion is strong.
Variant of uncertain significance (VUS)
A genetic variant was found, but its role in disease is not yet clear. Additional family testing or functional studies may be needed.
Likely benign/benign
The variant is unlikely to be responsible for the patient's clinical presentation.
If a child shows unexplained developmental regression, seizures, hypotonia, poor appetite, respiratory problems, or abnormal brain imaging suggestive of Leigh syndrome, consult a pediatric neurologist or metabolic specialist immediately.
Limitations
- ⚠NGS may not detect large deletions, duplications, or repeat expansions unless specifically requested
- ⚠A negative result does not exclude Leigh syndrome caused by genes not included in the panel
- ⚠Variant of uncertain significance may require segregation analysis in family members
- ⚠Reported variants are usually confirmed by Sanger sequencing when required
Risks & Considerations
- ●Minimal discomfort from needle prick
- ●Small risk of bruising at the blood collection site
- ●Fainting in rare cases during blood collection
Interfering Factors
- ●Poor DNA quality or quantity
- ●PCR contamination from other samples
- ●Low complexity or homopolymer sequence regions
- ●Incomplete coverage of certain exons
- ●Maternal cell contamination in blood samples
Compare With Similar Tests
| Test | NDUFAF2 Gene Leigh syndrome NGS Genetic Test | |||
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| Comparison | NDUFAF2 Gene Leigh syndrome NGS Genetic Test |
Frequently Asked Questions
What is the NDUFAF2 Gene Leigh Syndrome NGS Genetic Test?
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Is fasting required before the test?
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