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NDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic Test

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NDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: NDUFA11 Gene NGS Test

Also known as: NDUFA11 gene sequencing, Mitochondrial complex I deficiency genetic test, NDUFA11 mutation analysis

NDUFA11 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 The test report is typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic variants in the NDUFA11 gene that are known to cause mitochondrial complex I deficiency. It aids in confirming a clinical diagnosis, differentiating between mitochondrial causes and other neurological disorders, enabling early intervention, directing future surveillance, and providing critical information for genetic counseling and recurrence risk assessment in families.

Test Code
4303
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The test report is typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. The patient may be asked to provide a detailed clinical history, including any previous metabolic or neurological workup. A genetic counseling session to draw a pedigree chart is recommended before testing.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample is drawn by venipuncture into an EDTA vacutainer, or a few drops of blood are collected on an FTA card. For extracted DNA samples, the specimen is submitted in a sterile tube.

Step 3

Report Delivery

No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature. The patient may resume normal activities immediately.

Timeline: The test report is typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Prior to the test, a detailed clinical history and family pedigree will be reviewed. The attending physician or geneticist will explain the procedure, benefits, and limitations of genetic testing. Written informed consent will be obtained.
2
During the Test:A blood sample is collected, or a buccal swab/FTA card sample is taken. For extracted DNA samples, the sample is sent directly to the laboratory. The procedure takes only a few minutes.
3
After the Test:The sample is processed in the laboratory using NGS technology. The patient will be informed when the report is ready, typically in 3 to 4 weeks. A follow-up genetic counseling session is recommended to discuss the result.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the NDUFA11 gene that are known to cause mitochondrial complex I deficiency. It aids in confirming a clinical diagnosis, differentiating between mitochondrial causes and other neurological disorders, enabling early intervention, directing future surveillance, and providing critical information for genetic counseling and recurrence risk assessment in families.

How to Prepare

  • Inform the laboratory about any medications or supplements the patient is taking
  • No fasting is required
  • Provide a clinical history and pedigree chart for accurate interpretation
  • Ensure the sample is labeled correctly with patient name and date of collection

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for mitochondrial disorders should always be accompanied by a structured genetic counseling session. Early and precise diagnosis can help manage symptoms, guide surveillance, and provide informed family planning options for at-risk couples."

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 1-2 drops on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at room temperature (2-8°C preferred)
Extracted DNA: stable for 1 week at 2-8°C, long-term at -20°C
Dried blood spot on FTA card: stable for several months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Improperly labeled samples with missing patient identifiers
  • Samples reaching the laboratory after more than 72 hours from collection without proper refrigeration

Understanding Your Results

The genetic test report is issued by a clinical geneticist and includes classification of identified variants according to the American College of Medical Genetics and Genomics (ACMG) guidelines. The interpretation is provided in the context of the patient's clinical presentation.
Pathogenic or likely pathogenic variant(s) detected: Consistent with clinical diagnosis of NDUFA11-related mitochondrial complex I deficiency. Genetic counseling is recommended.
Variant of uncertain significance (VUS) detected: Additional family testing and functional studies are advised to clarify the pathogenic role.
No pathogenic variants detected: An NDUFA11-related etiology is unlikely, but other nuclear or mitochondrial genes should be considered if clinical suspicion remains high.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if the patient or child presents with symptoms such as developmental delay, seizures, hypotonia, lactic acidosis, unexplained cardiomyopathy, or respiratory distress. Early referral for genetic testing is crucial for timely management and family planning.

Limitations

  • ⚠This test only analyzes the NDUFA11 gene and does not screen other mitochondrial complex I subunit genes
  • ⚠Large genomic rearrangements such as exonic deletions or duplications cannot be reliably detected by standard NGS unless specifically requested
  • ⚠Variants of uncertain significance (VUS) may require further family segregation studies or functional assays

Risks & Considerations

  • ●Minimal pain or bruising at the blood draw site
  • ●Slight risk of infection (very rare when standard precautions are followed)
  • ●No other significant risks are associated with this test

Interfering Factors

  • ●Presence of highly homologous pseudogenes may interfere with read alignment
  • ●Variants in deep intronic or promoter regions are not detected by this targeted test
  • ●Low-level somatic mosaicism may not be identified with standard NGS analysis

Compare With Similar Tests

TestNDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic TestWhole Exome Sequencing (WES)Mitochondrial Genome Sequencing
ComparisonNDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic Test

Frequently Asked Questions

What is the NDUFA11 gene?
NDUFA11 is a gene that encodes the NADH-ubiquinone oxidoreductase subunit A11, which is a structural component of mitochondrial complex I. This complex is essential for cellular energy production via the electron transport chain.
What is mitochondrial complex I deficiency?
Mitochondrial complex I deficiency is a rare genetic disorder that affects the function of mitochondrial complex I, disrupting the respiratory chain and ATP production. It can lead to a wide range of clinical symptoms involving multiple organ systems, especially those with high energy demand.
What are the common symptoms of NDUFA11-related mitochondrial complex I deficiency?
Symptoms include developmental delay, seizures, weak muscle tone (hypotonia), impaired vision or blindness, heart problems, lactic acidosis, difficulty swallowing, respiratory problems, and intellectual disability. The severity can vary widely.
How is this genetic test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the entire coding region and intron-exon boundaries of the NDUFA11 gene. It is performed on a blood sample, extracted DNA, or a dried blood spot on an FTA card.
What is the cost of the NDUFA11 NGS genetic test in India?
The test is offered by DNA Labs India at a special price of INR 20000. This includes the genetic analysis, clinical report, and as with all DNA Labs India tests, raw data files (FASTQ, VCF) are also provided.
What sample types are accepted for this test?
The test accepts whole blood in an EDTA vacutainer, extracted DNA, or a few drops of blood on an FTA card. Please follow the laboratory's instructions for sample collection and transport.
Is fasting required before the test?
No, fasting is not required for this genetic test. The test is not influenced by food or beverages. However, you should inform the lab about any medications or supplements you are taking.
How long will it take to get the test report?
The turnaround time for the NDUFA11 NGS genetic test is typically 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data files with my report?
Yes, DNA Labs India is transparent and will provide raw data files (FASTQ, VCF) along with the conclusive clinical test report. This allows for secondary analysis if needed.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India. This service covers more than 300 cities.
Can this test detect all mitochondrial complex I deficiency mutations?
No, this test specifically targets the NDUFA11 gene. Mutations in other nuclear or mitochondrial genes that cause complex I deficiency will not be detected. A broader panel or whole exome sequencing may be needed to rule out other genetic causes.
Which doctor should I consult for this genetic test?
A neurologist, clinical geneticist, or pediatric metabolic specialist may order this test. Genetic counseling before and after the test is recommended to facilitate interpretation and family planning.
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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