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NDUFV1 Gene Mitochondrial complex I deficiency NGS Genetic Test

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NDUFV1 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: NDUFV1 NGS Genetic Test

Also known as: NDUFV1-related mitochondrial complex I deficiency, Complex I deficiency due to NDUFV1 mutation, NDUFV1 gene sequencing

NDUFV1 Gene Mitochondrial complex I deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing, NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 NDUFV1 gene in individuals suspected to have mitochondrial complex I deficiency. A confirmed molecular diagnosis can help guide surveillance, management, and recurrence risk counseling for affected families.

Test Code
4317
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing, NGS Technology
Step 1

Sample Collection

No fasting or special preparation is needed. However, a genetic counseling session is recommended before testing to draw a pedigree chart of family members affected with NDUFV1-related mitochondrial complex I deficiency.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist. If an FTA card is used, one drop of blood is spotted on the card and allowed to dry.

Step 3

Report Delivery

You can resume all normal activities. The sample is transported to the laboratory at ambient temperature for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counseling session is recommended to document family history and to draw a three-generation pedigree before the test.
2
During the Test:The test involves a simple peripheral blood draw or a finger-prick FTA card blood spot. There is no significant pain; a brief prick or needle insertion may cause mild discomfort.
3
After the Test:There are no dietary or activity restrictions after sample collection. The laboratory will process the sample and provide the report within 3 to 4 weeks.

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 NDUFV1 gene in individuals suspected to have mitochondrial complex I deficiency. A confirmed molecular diagnosis can help guide surveillance, management, and recurrence risk counseling for affected families.

How to Prepare

  • Ensure the patient's clinical history and suspected diagnosis are noted on the requisition form.
  • Use an EDTA (purple-top) tube for whole blood collection.
  • For FTA cards, spot one drop of blood in the center of each indicated circle and air-dry completely.
  • Label the sample and FTA card with patient name, date of birth, and collection date.
  • Ship the sample to the laboratory at room temperature in a leak-proof bag.

Doctor's Notes

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

"Mitochondrial complex I deficiency often presents with overlapping multi-organ manifestations. A targeted NDUFV1 NGS test helps clarify the genetic basis, but results should always be interpreted in the context of biochemical enzyme assay results and clinical phenotype."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne drop blood if using FTA card; otherwise as instructed
ContainerEDTA vacutainer / FTA card / sterile DNA tube
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood in EDTA: transport at ambient temperature and process within 72 hours.
FTA card blood spot: stable at room temperature for several weeks.
Extracted DNA: stable at -20°C or below after purification.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Unlabeled or mislabeled sample
  • FTA card that is wet, leaking, or improperly dried
  • Sample received in formalin or another fixative

Understanding Your Results

This test uses next-generation sequencing to analyze the NDUFV1 gene. The result is interpreted using standard American College of Medical Genetics and Genomics variant classification guidelines. Variant interpretation is integrated with clinical history and family pedigree.
Positive: Detection of two pathogenic/likely pathogenic variants in trans confirms autosomal recessive NDUFV1-related mitochondrial complex I deficiency.
Heterozygous carrier: One pathogenic variant identified; the individual is likely an asymptomatic carrier if no second variant is present.
Negative: No reportable variants found in NDUFV1; this does not exclude other nuclear or mitochondrial complex-I gene causes.
Variant of uncertain significance: Requires family segregation studies and/or functional evidence; reclassification may occur over time.
⚠️ When to Consult a Doctor:

If a child has developmental regression, seizures, hypotonia, elevated lactate, or evidence of mitochondrial dysfunction, consult a pediatrician, neurologist, or clinical geneticist. Positive or uncertain results should prompt formal genetic counseling before clinical decisions are made.

Limitations

  • ⚠This test is targeted to the NDUFV1 gene only; mitochondrial DNA and other nuclear complex-I genes are not covered.
  • ⚠Large deletions or duplications are not reliably detected by standard NGS.
  • ⚠Variants of uncertain significance may be reported; a diagnostic conclusion should not be made from a VUS alone.
  • ⚠A negative result does not exclude mitochondrial complex I deficiency caused by mutations in other genes.

Risks & Considerations

  • ●No significant risks
  • ●Mild bruising or tenderness at the venipuncture site

Interfering Factors

  • ●Insufficient or degraded DNA
  • ●Maternal cell contamination in prenatal samples
  • ●Sample mix-up or improper labeling
  • ●Consanguinity may complicate variant segregation analysis
  • ●Low DNA concentration or poor NGS library quality

Frequently Asked Questions

What is the cost of NDUFV1 Gene Mitochondrial Complex I Deficiency NGS Genetic Test?
The test costs INR 20000 (Rs 20000.0) at DNA Labs India. This includes the NGS genetic test, genetic counseling support, clinical report, and raw data files such as FASTQ and VCF where applicable. Free home sample collection is available for online bookings in many cities.
What is NDUFV1 gene mitochondrial complex I deficiency?
It is a rare autosomal recessive mitochondrial disorder caused by pathogenic variants in the NDUFV1 gene. The gene encodes a subunit of respiratory chain complex I, and its mutations impair cellular energy production, resulting in neurological, muscular, cardiac, and hepatic symptoms.
What are the symptoms of NDUFV1-related complex I deficiency?
Symptoms include delayed development, hypotonia, seizures, vision problems, difficulty swallowing, respiratory insufficiency, hepatomegaly, and cardiomyopathy. Symptoms may begin at birth or later and vary in severity.
What sample types are accepted for this test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card. The laboratory provides a requisition form with clinical history and consent requirements.
Is fasting required before the NDUFV1 NGS genetic test?
No, fasting is not required for this genetic test. Patients can eat and drink normally unless other tests are being done simultaneously.
How long does it take to get the report?
The report is usually available in 3 to 4 weeks after the sample reaches the laboratory. Reports are sent through the online portal, email, and WhatsApp.
Will I receive raw data with the clinical report?
Yes. DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report for transparency and to allow further analysis if needed.
Can this NGS test detect mutations in other mitochondrial genes?
No. This is a targeted NDUFV1 gene test. It does not sequence mitochondrial DNA or other nuclear complex-I genes. A broader mitochondrial gene panel or whole exome sequencing may be needed if NDUFV1 is negative.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic NDUFV1 variant or biallelic variants were identified, confirming the molecular diagnosis of NDUFV1-related mitochondrial complex I deficiency in the appropriate clinical setting.
What does a negative test result mean?
A negative result means no reportable pathogenic variant was found in NDUFV1. It reduces the likelihood of NDUFV1-related disease but does not exclude mitochondrial complex I deficiency from other genetic causes.
Is genetic counseling available with this test?
Yes. A genetic counseling session is included to draw a pedigree chart of family members affected by the disease and to explain inheritance, recurrence risk, and management options.
Where can I book this test?
The test can be booked online through DNA Labs India's website. Home sample collection is available in Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many other cities across 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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