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NDUFS6 Gene Mitochondrial complex I deficiency NGS Genetic Test

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NDUFS6 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: NDUFS6 Gene NGS Test

Also known as: NDUFS6 Gene Mutation Analysis, Mitochondrial Complex I Deficiency NGS Test, NDUFS6 Sequencing

NDUFS6 Gene Mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after sample receipt.. 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 or likely pathogenic variants in the NDUFS6 gene that cause mitochondrial complex I deficiency. The result confirms the clinical suspicion, enables carrier testing for family members, and informs genetic counseling and reproductive decisions.

Test Code
4311
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS
Step 1

Sample Collection

No special preparation is required. A genetic counseling session is recommended before testing to discuss the purpose, risks, and implications of the test. For FTA card collection, ensure the card is dry and stored properly.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. If using FTA card, one drop of blood is applied to the card. The procedure is safe and takes only a few minutes.

Step 3

Report Delivery

No post-collection restrictions. The sample is transported to the laboratory in appropriate packaging. You can resume normal activities immediately.

Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the NDUFS6 gene that cause mitochondrial complex I deficiency. The result confirms the clinical suspicion, enables carrier testing for family members, and informs genetic counseling and reproductive decisions.

How to Prepare

  • Collection strictly at designated laboratory or via trained home sample collection professional
  • For blood: use EDTA vacutainer and mix gently by inverting
  • For FTA card: apply one drop of blood to the marked circle, label properly, and air dry completely
  • Sample must be accompanied by a signed test requisition form and consent

Doctor's Notes

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

"A molecular diagnosis in mitochondrial disorders helps guide multidisciplinary care and enables timely genetic counseling for at-risk family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or as per collection protocol
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

Whole blood in EDTA: 24-48 hours at 2-8°C
Extracted DNA: stable for 12 months at -20°C
FTA card: stable at ambient temperature for several months
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample volume
  • Improperly labeled sample or missing requisition form
  • Sample received without genetic counseling confirmation
  • Evidence of sample degradation

Understanding Your Results

This NGS assay detects variants in the NDUFS6 gene. Results are reported as positive, negative, or variants of uncertain significance. Final interpretation integrates clinical and biochemical information. A clinical geneticist will explain the findings and implications.
Positive: Presence of a pathogenic/likely pathogenic variant confirmed
Negative: No pathogenic variant detected in the NDUFS6 coding region
Variant of Uncertain Significance (VUS): Requires further segregation analysis, functional studies, or RNA studies
Carrier: One heterozygous pathogenic variant detected, not expected to cause the disease in the proband but informs recurrence risk
⚠️ When to Consult a Doctor:

If you or a family member experiences unexplained muscle weakness, seizures, developmental delay, or other signs of mitochondrial disease, consult a neurologist or a clinical geneticist promptly. Genetic testing can confirm the diagnosis and guide management.

Limitations

  • ⚠Targeted NGS panel will not detect large copy number variants or deep intronic variants
  • ⚠A negative result does not exclude a genetic cause for the clinical presentation
  • ⚠Variants of uncertain significance may be reported and require further investigation
  • ⚠This test does not assess the mtDNA genome

Risks & Considerations

  • ●No significant risks associated with a routine blood draw
  • ●Mild pain, bruising, or bleeding at the venipuncture site
  • ●Fainting or lightheadedness during blood collection (rare)

Interfering Factors

  • ●Insufficient or poor quality DNA extracted
  • ●Sample contamination
  • ●Maternal cell contamination in prenatal samples
  • ●Sequence variants in non-coding regulatory regions may not be reliably detected

Frequently Asked Questions

What is the NDUFS6 gene NGS test?
It is a next-generation sequencing test that analyzes the NDUFS6 gene for mutations associated with mitochondrial complex I deficiency.
What is mitochondrial complex I deficiency?
It is a rare inherited disorder where the first enzyme complex in the mitochondrial electron transport chain is defective, leading to reduced cellular energy production. This can cause symptoms such as weakness, developmental delay, and seizures.
What are common symptoms of NDUFS6-related mitochondrial complex I deficiency?
Symptoms include muscle weakness, developmental delay, seizures, intellectual disability, abnormal muscle tone, visual or hearing impairment, encephalopathy, and respiratory distress.
How is the test performed?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. The DNA is then sequenced using NGS technology to look for mutations in the NDUFS6 gene.
Is fasting required for this test?
No, fasting is not required. You can eat and drink normally before providing the sample.
How long does it take to get the report?
Turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic mutation in NDUFS6 has been identified, confirming the genetic basis of the condition.
What does a negative result mean?
A negative result means no disease-causing variant was detected in the tested coding regions of NDUFS6. It does not completely exclude mitochondrial complex I deficiency caused by other genes or other variant types.
What is the cost of the test?
The special all-inclusive price for this NGS genetic test is INR 20000, with free home sample collection in many cities across India.
Do I need genetic counseling before this test?
Yes, a genetic counseling session is part of the test process. It helps to draw a family pedigree, understand the implications of results, and provide informed consent.
Are there any risks in undergoing this test?
The only risk is from a routine blood draw, such as mild bruising or discomfort. No significant health risks are associated with genetic testing itself.
How can I book the test?
You can book online on the DNA Labs India website. Free home sample collection is offered for online bookings across more than 200 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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