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NDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic Test

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NDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: NDUFS1 Gene NGS Test

Also known as: NDUFS1 gene mutation test, Mitochondrial complex I deficiency genetic panel, NDUFS1 sequencing test

NDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation for clinically significant variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are available within 3 to 4 weeks after the sample is received by the laboratory.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the NDUFS1 gene that cause mitochondrial complex I deficiency and to assist the clinician in establishing a molecular diagnosis, improving counselling for recurrence risk and guiding management.

Test Code
4312
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are available within 3 to 4 weeks after the sample is received by the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger confirmation for clinically significant variants
Step 1

Sample Collection

No special preparation is required. The individual should carry the referral from the treating doctor and any previous biochemical or clinical investigations. Please inform the laboratory about any recent blood transfusion or bone marrow transplant as this may affect the result.

Method: Peripheral venipuncture or FTA card finger-prick

Step 2

Laboratory Analysis

A peripheral blood sample is collected by a trained phlebotomist. For FTA cards, one drop of blood from a finger prick is applied to the marked circles on the card.

Step 3

Report Delivery

There are no dietary or activity restrictions after sample collection. The sample should be transported to the laboratory according to the instructions provided with the collection kit.

Timeline: Results are available within 3 to 4 weeks after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No fasting is needed. A clinical history and genetic counselling session are recommended. A pedigree chart of affected family members should be drawn before testing.
2
During the Test:The sample is collected as blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. The sample is then sent to the laboratory for NGS analysis.
3
After the Test:The laboratory processes the sample and reports are available in 3 to 4 weeks. The clinical report and raw data files are shared with the patient or treating clinician.

About This Test

Who Should Get This Test

To identify pathogenic variants in the NDUFS1 gene that cause mitochondrial complex I deficiency and to assist the clinician in establishing a molecular diagnosis, improving counselling for recurrence risk and guiding management.

How to Prepare

  • No fasting is required.
  • For blood sample, collect in an EDTA vacutainer.
  • For FTA card, apply one drop of blood to the marked circles.
  • For extracted DNA, provide sufficient DNA quantity and quality as required by the laboratory.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Clinical evaluation of mitochondrial disorders requires a multidisciplinary approach. Genetic counselling before and after testing helps families understand the inheritance pattern and clinical implications of NDUFS1 variants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per collection kit instructions
ContainerEDTA vacutainer / FTA card / DNA extraction tube
Collection MethodPeripheral venipuncture or FTA card finger-prick

Sample Stability

EDTA blood: 2-8°C for up to 72 hours.
Extracted DNA: -20°C for up to 6 months.
FTA card: Room temperature for up to 1 year.
Sample Rejection Criteria:
  • Hemolyzed or frozen blood sample.
  • Insufficient sample volume.
  • Improperly labelled sample.
  • Samples collected in heparin or fluoride tubes instead of EDTA.

Understanding Your Results

The detection of a pathogenic or likely pathogenic variant in the NDUFS1 gene in a person with compatible clinical features strongly supports the molecular diagnosis of NDUFS1-related mitochondrial complex I deficiency.
No pathogenic variant detected: A molecular diagnosis is not confirmed by this test. If clinical suspicion remains high, broader genetic testing such as a multi-gene mitochondrial disease panel or whole exome sequencing may be considered.
Pathogenic or likely pathogenic variant detected: Confirms the molecular diagnosis of NDUFS1-related mitochondrial complex I deficiency in the appropriate clinical context.
Variant of uncertain significance (VUS): This result is not diagnostic. Further segregation analysis in family members or additional functional studies may be needed to clarify its significance.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if you or your child has unexplained developmental delay, seizures, muscle weakness, cardiomyopathy, lactic acidosis, or a family history of mitochondrial disease. Genetic counselling is recommended before and after testing.

Limitations

  • ⚠This targeted test only analyses the NDUFS1 gene. A negative result does not exclude mitochondrial complex I deficiency caused by variants in other nuclear or mitochondrial genes.
  • ⚠NGS may not detect large deletions, duplications, or structural variants depending on the analysis. Clinically reported variants are confirmed by Sanger sequencing.
  • ⚠Variants of uncertain clinical significance may be reported. Follow-up testing of family members or additional functional studies may be required.

Risks & Considerations

  • ●Mild pain or bruising at the needle site.
  • ●Minimal risk of infection.
  • ●No radiation or contrast-related risk is involved.

Interfering Factors

  • ●Low quality or degraded DNA may reduce sequencing coverage.
  • ●Contamination of sample with another person's DNA can affect results.
  • ●Insufficient quantity of extracted DNA.
  • ●Large gene rearrangements or deep intronic variants may not be detected by this targeted NGS test.

Compare With Similar Tests

TestNDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic Test
ComparisonNDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic TestNDUFS1 test is targeted to one gene and is less expensive; WES analyses most coding regions of the genome and can identify variants in other mitochondrial disease genes.NDUFS1 is a nuclear gene; mtDNA testing is used for mitochondrial genome variants. Both may be needed in suspected mitochondrial disease.

Frequently Asked Questions

What is the cost of NDUFS1 gene mitochondrial complex I deficiency NGS genetic test?
The test cost is INR 20,000, inclusive of test kit, sample collection, and analysis by NGS. Free home sample collection is available for online bookings across India.
What sample is required for this test?
The sample can be blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. There is no fasting requirement.
How long will reports take?
Reports are delivered in 3 to 4 weeks after the sample reaches the laboratory.
Who should undergo this test?
It is recommended for individuals with clinical features suggestive of mitochondrial complex I deficiency, such as developmental delay, seizures, muscle weakness, exercise intolerance, or cardiomyopathy, and for families with known NDUFS1 variants.
What is mitochondrial complex I deficiency?
Mitochondrial complex I deficiency is a rare genetic disorder of the mitochondrial respiratory chain that reduces energy production and affects high-energy organs including the brain, muscle, and heart. It can present with neurological, muscular, and cardiac symptoms.
Will I receive raw data and VCF files?
Yes. DNA Labs India shares the clinical report along with raw data, FASTQ, and VCF files for transparency. You should ask for these when booking.
Does a negative result completely rule out mitochondrial disease?
No. This test analyses the NDUFS1 gene only. A negative result does not exclude mitochondrial complex I deficiency due to variants in other nuclear or mitochondrial genes, and broader panels may be needed.
Is genetic counselling required before testing?
Yes, a genetic counselling session is recommended to draw a family pedigree and help interpret the clinical and genetic significance of results.
How is this test performed?
DNA is extracted from the sample and NGS is used to sequence the NDUFS1 gene. Clinically significant variants are confirmed by Sanger sequencing.
What do possible results mean?
Results may show no pathogenic variant, a pathogenic or likely pathogenic variant, or a variant of uncertain significance. Interpretation should always be performed by a clinical geneticist.
Do you provide home sample collection?
Yes, free home sample collection is offered for online bookings in several cities, including Mumbai, Delhi, Bangalore, Hyderabad, Pune, Chennai, Kolkata, and many more across India.
Is this test covered by insurance?
Coverage varies by insurer and policy. Please check with your provider. PMJAY, CGHS, ECHS, and ESIC are not covered by default for this test.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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