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NDUFV2 Gene Mitochondrial complex I deficiency NGS Genetic Test

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NDUFV2 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: NDUFV2 NGS Test

Also known as: NDUFV2 Mitochondrial Complex I Deficiency Genetic Test, NDUFV2 Gene Sequencing, Complex I Deficiency NGS Panel, NDUFV2 Mutation Analysis

NDUFV2 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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-based genetic test is to identify disease-causing variants in the NDUFV2 gene, confirm a diagnosis of mitochondrial complex I deficiency, and support clinical management and genetic counselling.

Test Code
4313
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 after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A clinical history and family pedigree information are recommended before testing. Genetic counselling is advised to draw the pedigree chart of affected family members.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A small blood sample is collected in an EDTA tube, or one drop of blood is placed on an FTA card. The procedure is quick, safe, and non-invasive.

Step 3

Report Delivery

There are no specific post-collection precautions. Patients may resume normal activities immediately after sample collection.

Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended before the test to draw a pedigree chart and understand the implications of genetic findings.
2
During the Test:The NGS genetic test requires only a small blood or saliva sample. It is a non-invasive procedure with minimal discomfort.
3
After the Test:After sample collection, the sample is sent to a specialized laboratory. No special care is needed, and the patient can resume routine activities.

About This Test

Who Should Get This Test

The purpose of this NGS-based genetic test is to identify disease-causing variants in the NDUFV2 gene, confirm a diagnosis of mitochondrial complex I deficiency, and support clinical management and genetic counselling.

How to Prepare

  • Use an EDTA tube for blood collection or an FTA card for one drop of blood
  • Ensure FTA card is air-dried before placing in the bag
  • Label the sample clearly with patient name and ID
  • Maintain sample at room temperature during transport

Doctor's Notes

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

"A confirmed genetic diagnosis is important to guide surveillance and management of mitochondrial complex I deficiency."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample volume or DNA concentration
  • Sample not labeled or mislabeled
  • Sample received in a leaking or non-sterile container
  • Blood sample stored above room temperature for more than 72 hours

Understanding Your Results

This single-gene NGS test reports findings in the NDUFV2 gene. Results are classified as positive, negative, or variant of uncertain significance (VUS), based on ACMG/AMP guidelines.
📊

Positive

A pathogenic or likely pathogenic variant was identified in the NDUFV2 gene. This confirms the molecular diagnosis of NDUFV2-related mitochondrial complex I deficiency.

📊

Negative

No clinically significant variant was detected in the NDUFV2 gene. This does not exclude a non-genetic cause or variants in other genes that may mimic the disorder.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found, but its impact on protein function is not yet clear. Further family studies and functional testing may be required.

⚠️ When to Consult a Doctor:

If you or a family member show symptoms such as persistent muscle weakness, developmental delay, seizures, unexplained vision or hearing loss, or speech/swallowing difficulty, consult a clinical geneticist or neurologist to discuss genetic testing.

Limitations

  • ⚠NGS may not detect large structural rearrangements, deep intronic variants, or very complex genomic events.
  • ⚠Some variants of uncertain significance may be reported without a clear clinical interpretation.
  • ⚠Low-level mosaicism may not be detected by standard NGS analysis.
  • ⚠A negative result does not completely exclude a genetic cause if the disease is caused by variants in genes not covered by this test.

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site
  • ●Rare bleeding or infection at the site
  • ●No significant medical risks associated with the test

Interfering Factors

  • ●Recent allogeneic stem cell transplant may affect genetic results
  • ●Maternal cell contamination in prenatal samples
  • ●Insufficient DNA quantity or quality
  • ●Contamination during sample collection
  • ●Presence of homologous pseudogene sequences

Compare With Similar Tests

TestNDUFV2 Gene Mitochondrial complex I deficiency NGS Genetic Test
ComparisonNDUFV2 Gene Mitochondrial complex I deficiency NGS Genetic Test

Frequently Asked Questions

What is the cost of the NDUFV2 gene mitochondrial complex I deficiency NGS genetic test?
The test costs INR 20000, which includes NGS sequencing, bioinformatics analysis, and interpretation by genetic professionals. Free home sample collection is available for online bookings.
What sample is required for this NGS genetic test?
The sample required is blood or extracted DNA or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this test.
How will I get the report?
The report is delivered through an online portal, email, or WhatsApp within 3 to 4 weeks.
What is NDUFV2 gene mitochondrial complex I deficiency?
It is a rare genetic disorder caused by mutations in the NDUFV2 gene, affecting mitochondrial complex I and decreasing cellular energy production. Symptoms include muscle weakness, developmental delay, seizures, and vision/hearing issues.
Who should consider taking this test?
Individuals with unexplained muscle weakness, developmental delay, seizures, vision or hearing loss, speech or swallowing difficulties, or a family history of mitochondrial complex I deficiency should consider this test.
How is next-generation sequencing performed for this test?
DNA is extracted from the patient's sample, enriched for the NDUFV2 gene, and sequenced using NGS technology. The data is analyzed to identify pathogenic variants.
What types of results can I receive?
Results are reported as positive (pathogenic variant identified), negative (no clinically significant variant), or variant of uncertain significance (VUS).
Will DNA Labs India provide raw data files?
Yes. DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report. They are the only lab that provides this transparent data.
Is home sample collection available?
Yes, free home sample collection is provided for online bookings across many cities in India including Mumbai, Delhi, Bangalore, Hyderabad, and others.
Can this test be done on children?
Yes, the test is suitable for all age groups including children, especially those with neurological or mitochondrial disorder symptoms.
Is genetic counselling included?
A genetic counselling session to draw a pedigree chart of affected family members is recommended as part of pre-test information. The test cost includes clinical interpretation by genetic professionals.
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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