NDUFS7 Gene Leigh syndrome NGS Genetic Test
Short Name: NDUFS7 Leigh Syndrome NGS
Also known as: NDUFS7 Gene Mutation Analysis, Leigh Syndrome NGS Gene Panel, Mitochondrial Complex I Leigh Syndrome Test
NDUFS7 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. This includes time for sequencing, data analysis, and preparation of the clinical report.. 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 identify pathogenic mutations in the NDUFS7 gene that cause Leigh syndrome. The test serves as a diagnostic tool to confirm clinical suspicion, provide prognostic information, guide therapeutic decisions, and enable reproductive risk assessment for affected families.
- Test Code
- 4170
- CPT Code
- 81407
- ICD Code
- G31.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. This includes time for sequencing, data analysis, and preparation of the clinical report.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. The patient's clinical history and family pedigree should be provided. A genetic counseling session is recommended before the test to understand the implications of the results.
Method: Peripheral venipuncture / Blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect a blood sample under aseptic conditions. For FTA card collection, a simple heel/finger prick is performed.
Report Delivery
After blood collection, the sample is labeled and sent to the laboratory. Patients can resume normal daily activities. No specific aftercare is required.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. This includes time for sequencing, data analysis, and preparation of the clinical report.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the NDUFS7 gene that cause Leigh syndrome. The test serves as a diagnostic tool to confirm clinical suspicion, provide prognostic information, guide therapeutic decisions, and enable reproductive risk assessment for affected families.
How to Prepare
- For blood sample: Collect in an EDTA vacutainer and tube must be inverted gently 8-10 times.
- For FTA card: Apply 3-4 blood drops to the FTA card, air dry for at least 30 minutes.
- Label the sample with patient name, date, and unique ID.
- Send samples at ambient temperature for blood in EDTA or FTA card.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Leigh syndrome is a progressive neurological disorder with an autosomal recessive inheritance pattern. Early genetic confirmation is essential for management and for providing accurate recurrence risk counseling to affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or lipemic blood sample
- Insufficient quantity of blood or DNA
- Improperly labeled sample
- Expired or contaminated FTA card
Understanding Your Results
Positive - pathogenic variant identified
Action: Confirms the diagnosis of Leigh syndrome in the appropriate clinical context. Family members should be offered targeted testing and genetic counseling.
Positive - likely pathogenic variant identified
Action: Strongly suggests diagnosis; additional co-segregation studies or functional assays may be recommended to confirm.
Negative - no pathogenic variant detected
Action: Reduces the likelihood of NDUFS7-related Leigh syndrome, but does not exclude the condition. Consider testing other Leigh syndrome genes or whole exome sequencing.
Variant of uncertain significance (VUS)
Action: Further testing of family members or additional bioinformatics analysis may help to clarify the pathogenicity of the variant.
Consult a neurologist or geneticist if the child or individual shows developmental delays, unexplained hypotonia, seizures, or breathing difficulties. Also seek genetic counseling if there is a family history of Leigh syndrome or if you are planning a pregnancy and are known carriers of an NDUFS7 mutation.
Limitations
- ⚠This test analyzes the coding region and flanking intronic regions of the NDUFS7 gene only.
- ⚠Deep intronic mutations, large deletions/duplications, and rearrangements are not detected.
- ⚠Variants of uncertain significance may be reported, requiring further family studies.
- ⚠Mutations in other genes causing Leigh syndrome are not evaluated by this focused test.
Risks & Considerations
- ●No significant medical risks are associated with the blood draw sample collection.
- ●Possible minor bruising at the needle site.
- ●Psychological and emotional impact of genetic test results on patients and families.
Interfering Factors
- ●No significant interfering factors have been reported for NGS-based genetic tests.
- ●Low DNA quality or quantity may affect sequencing coverage.
- ●Maternal DNA contamination in blood samples may interfere with analysis.
Compare With Similar Tests
| Test | NDUFS7 Gene Leigh syndrome NGS Genetic Test | NDUFS7 Gene NGS Test | Leigh Syndrome Custom Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | NDUFS7 Gene Leigh syndrome NGS Genetic Test |
Frequently Asked Questions
What does the NDUFS7 gene Leigh syndrome NGS genetic test cost?
What sample type is required for this test?
How long does it take to get the test report?
What does the NGS genetic test for NDUFS7 gene detect?
Is fasting required before taking this test?
Can the test be done on a child?
Are home sample collection services available?
What is the clinical use of this test?
What additional files do I receive with the clinical report?
How are the results interpreted?
Will this test detect mutations in other genes causing Leigh syndrome?
Can this test be used for prenatal diagnosis?
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