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NDUFS4 Gene Mitochondrial complex I deficiency NGS Genetic Test

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NDUFS4 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: NDUFS4 Gene NGS Test

Also known as: NDUFS4 Mutation Analysis, NDUFS4 Gene Sequencing, Mitochondrial Complex I Deficiency NGS Panel

NDUFS4 Gene Mitochondrial complex I deficiency 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 3 to 4 weeks of sample receipt. An additional few days may be required if confirmation by Sanger sequencing is necessary.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

The purpose of this NGS genetic test is to identify pathogenic variants in the NDUFS4 gene, which are associated with mitochondrial complex I deficiency. The test results can confirm a clinical diagnosis, allow for early intervention, guide treatment and management, determine recurrence risks, and support carrier testing and prenatal planning in affected families.

Test Code
4321
CPT Code
81405
ICD Code
E88.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically issued within 3 to 4 weeks of sample receipt. An additional few days may be required if confirmation by Sanger sequencing is necessary.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation, fasting is not required. A valid patient ID and a completed test requisition form are necessary.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A simple blood draw is performed by a trained phlebotomist. Alternatively, a few drops of blood are collected on an FTA card.

Step 3

Report Delivery

No post-collection precautions are needed. The sample is labelled with a unique identifier and transported to the laboratory.

Timeline: Reports are typically issued within 3 to 4 weeks of sample receipt. An additional few days may be required if confirmation by Sanger sequencing is necessary.

Patient Instructions

1
Before the Test:A patient with a physician or neurologist consult is advised to undergo genetic counseling and draw a pedigree. No fasting or special preparation is needed. Results from NDUFS4 NGS can help establish a definite diagnosis and guide patient care.
2
During the Test:The test involves a single blood draw or FTA card sample collection. The sample is sent to the DNA Labs India laboratory, where DNA is extracted and NGS sequencing is performed on the NDUFS4 gene. The entire process is automated and quality-controlled.
3
After the Test:After the report is released, a genetic counselor may contact the patient to explain the findings and next steps. The patient is encouraged to share the report with their treating neurologist for clinical correlation.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the NDUFS4 gene, which are associated with mitochondrial complex I deficiency. The test results can confirm a clinical diagnosis, allow for early intervention, guide treatment and management, determine recurrence risks, and support carrier testing and prenatal planning in affected families.

How to Prepare

  • Do not eat, drink, or need to fast for this test.
  • Inform the laboratory if the patient has received a blood transfusion recently.
  • For FTA card collection, ensure the blood spots are allowed to dry completely before packaging.
  • The sample must be labeled with the patient's name, date of birth, and collection time.

Doctor's Notes

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

"Mitochondrial complex I deficiency often presents with heterogeneous neurological symptoms. Genetic confirmation not only helps in early intervention but also enables accurate family counseling and reproductive planning. This NGS-based test provides a reliable molecular diagnosis with a quick turnaround time."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or 1-2 drops of blood on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA tube is stable for 7 days at 2-8°C and for up to 24 hours at ambient temperature.
Dried blood spot on FTA card is stable for at least 12 months at room temperature.
Extracted DNA is stable for up to 6 months at -20°C.
Sample Rejection Criteria:
  • Improperly labeled specimen or missing patient identifiers.
  • Hemolyzed, clotted, or frozen whole blood.
  • Insufficient sample volume for DNA extraction.
  • FTA card that is wet or contaminated.

Understanding Your Results

The NDUFS4 gene NGS test provides a genetic result that should be interpreted in the context of the patient's clinical presentation and biochemical findings (lactate, pyruvate, etc.). A positive result (pathogenic or likely pathogenic variant) confirms the molecular diagnosis of mitochondrial complex I deficiency. A negative result does not exclude the disorder, as other genes or mechanisms may be involved.
📊

Pathogenic / Likely pathogenic variant detected

Confirms diagnosis, enables targeted management and reproductive counseling.

📊

Variant of uncertain significance (VUS)

Requires additional segregation analysis, functional studies, or correlation with clinical phenotype.

📊

No pathogenic variant detected

Mitochondrial complex I deficiency may still be present due to mutations in other genes; further testing may be considered.

⚠️ When to Consult a Doctor:

You should consult a physician, ideally a neurologist or geneticist, if you or your child experience unexplained muscle weakness, developmental regression, seizures, hypotonia, or vision loss. A positive family history of mitochondrial disease is also an indication to undergo genetic counseling and testing.

Limitations

  • ⚠This test only analyses the NDUFS4 gene and does not detect mutations in other mitochondrial complex I subunits or mitochondrial DNA.
  • ⚠Large deletions, duplications, and deep intronic variants may not be identified by routine NGS.
  • ⚠Mosaic mutations below the assay sensitivity threshold may be missed.

Risks & Considerations

  • ●No significant medical risk is associated with blood collection except for minor bruising or discomfort.
  • ●Genetic testing may reveal presymptomatic carrier or affected status, which could cause emotional distress.
  • ●There is a small risk of inconclusive results (e.g., VUS) requiring further testing.

Interfering Factors

  • ●No known dietary or medication interference for DNA-based testing.
  • ●Sample contamination with another individual's DNA can hamper results.
  • ●Inadequate sample quantity or poor DNA quality may cause amplification failure.

Compare With Similar Tests

TestNDUFS4 Gene Mitochondrial complex I deficiency NGS Genetic TestMitochondrial Genome SequencingMulti-Gene Mitochondrial PanelSanger Sequencing for NDUFS4
ComparisonNDUFS4 Gene Mitochondrial complex I deficiency NGS Genetic Test

Frequently Asked Questions

What is the cost of the NDUFS4 Gene Mitochondrial Complex I Deficiency NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India. This includes genetic counseling, NGS sequencing, analysis, and a detailed clinical report with raw data files.
What sample is required for this test?
The test can be performed on a 5 ml blood sample collected in an EDTA tube, or one drop of blood spotted on an FTA card. Extracted DNA is also acceptable.
Is fasting required before sample collection?
No, fasting is not required for this genetic test. You can eat and drink normally before providing the sample.
How long will the test results take?
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will receive a notification when the report is ready.
Why should I choose DNA Labs India for this test?
DNA Labs India is the only lab that shares raw FASTQ and VCF data files along with the clinical report, ensuring full transparency and enabling further analysis if needed.
Can this test be done for a newborn or infant?
Yes, the test is suitable for all age groups. A small blood sample or an FTA card spot is sufficient for DNA extraction and NGS analysis.
Does a negative result mean my child does not have mitochondrial disease?
A negative result for the NDUFS4 gene does not completely rule out mitochondrial complex I deficiency, as mutations in other genes or mitochondrial DNA may be present. Further genetic or biochemical investigations may be warranted.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change with unknown effect on the gene function. It cannot be classified as pathogenic or benign. Additional family studies or functional assays may be recommended to reclassify the variant.
Will the insurance provider cover the cost of this test?
Coverage varies depending on your insurance plan and the indication for testing. We advise you to check with your insurance provider. We can provide the necessary documentation for your claim.
What does the test report include?
The report includes the patient's demographic details, clinical indication, raw data (FASTQ, VCF), results of NDUFS4 gene sequencing, variant classification, and an interpretive summary.
Is genetic counseling provided with the test?
Yes, genetic counseling is included before and after the test. Our genetic counselors help draw a pedigree, explain the implications of the result, and guide you on family planning if needed.
How can I book this test?
You can book the test online from our website or by calling our customer care. We offer free home sample collection across various cities in India.
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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