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MT-ND3 Gene Mitochondrial complex I deficiency NGS Genetic Test

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MT-ND3 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: MT-ND3 NGS Test

Also known as: MT-ND3 mutation test, Mitochondrial complex I deficiency genetic test, MT-ND3 gene NGS panel

MT-ND3 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 delivered within 3 to 4 weeks after the sample is received by the laboratory.. 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 test is to identify pathogenic variants in the MT-ND3 gene that are associated with mitochondrial complex I deficiency. The result helps in confirming clinical diagnosis, enabling genetic counselling, and supporting informed management decisions for the patient and family.

Test Code
4296
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 the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with MT-ND3 gene mitochondrial complex I deficiency. Please carry a valid prescription or referral note if available.

Method: Blood draw, FTA card spot, or extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect the blood sample in an EDTA tube, or an FTA card spot may be prepared. For extracted DNA samples, ensure proper labelling and shipment conditions.

Step 3

Report Delivery

No special precautions are needed. You can resume normal activities immediately after sample collection.

Timeline: Reports are delivered within 3 to 4 weeks after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No fasting required. A genetic counselling session is recommended to document family history and create a pedigree chart.
2
During the Test:A blood sample will be collected or an FTA card spot will be prepared. The process takes only a few minutes.
3
After the Test:You may resume all normal activities. The laboratory will share the report and raw sequencing data within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the MT-ND3 gene that are associated with mitochondrial complex I deficiency. The result helps in confirming clinical diagnosis, enabling genetic counselling, and supporting informed management decisions for the patient and family.

How to Prepare

  • Please provide a valid clinical history or referral note.
  • Ensure the blood sample is collected in an EDTA vacutainer.
  • For FTA card, apply one drop of blood and let it air dry before placing in the provided pouch.
  • If sending extracted DNA, store at -20°C until shipment and use cold packaging.

Doctor's Notes

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

"A referral for genetic testing should be accompanied by a detailed clinical history and pedigree analysis. Post-test genetic counselling is essential for accurate interpretation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA vacutainer / FTA card / DNA shipment tube
Collection MethodBlood draw, FTA card spot, or extracted DNA submission

Sample Stability

Whole blood in EDTA: 7 days at 2-8°C
Extracted DNA: stable for weeks at -20°C
FTA card: stable at ambient temperature for several months
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Improperly labelled sample
  • Sample leaking in transit
  • Sample received more than 7 days after collection

Understanding Your Results

Interpretation of the MT-ND3 gene NGS test should be performed by a qualified clinical geneticist in the context of the patient's clinical presentation, biochemical results, and family history.
Pathogenic variant detected: Provides molecular confirmation of MT-ND3-related mitochondrial complex I deficiency.
Likely pathogenic variant detected: Should be correlated clinically; segregation analysis in family members may be useful.
Variant of uncertain significance (VUS): Cannot confirm or exclude the diagnosis; further investigations and genetic counselling are recommended.
No pathogenic variant detected: Does not rule out mitochondrial complex I deficiency, as mutations in other genes may be responsible.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the patient has symptoms suggestive of mitochondrial disease, if the test detects a pathogenic variant or VUS, or if you need help interpreting the genetic test result.

Limitations

  • ⚠This test is targeted to the MT-ND3 gene only and does not analyze other mitochondrial DNA genes or nuclear genes associated with complex I deficiency
  • ⚠Low-level heteroplasmy below the sensitivity of the assay may not be detected
  • ⚠Large deletions or rearrangements may not be detected by standard NGS
  • ⚠A negative result does not exclude mitochondrial disease caused by mutations in other genes
  • ⚠Results must be interpreted in the context of clinical history and with genetic counselling

Risks & Considerations

  • ●No significant risks are associated with this genetic test.
  • ●Routine blood draw may cause mild pain, bruising, or discomfort at the puncture site.

Interfering Factors

  • ●Heteroplasmy levels in mitochondrial DNA may affect variant detection
  • ●Degraded DNA or low-quality samples may lead to failed sequencing
  • ●Contamination during sample collection
  • ●Recent blood transfusion or bone marrow transplantation may affect blood-based DNA testing

Compare With Similar Tests

TestMT-ND3 Gene Mitochondrial complex I deficiency NGS Genetic Test
ComparisonMT-ND3 Gene Mitochondrial complex I deficiency NGS Genetic Test

Frequently Asked Questions

What is the MT-ND3 gene mitochondrial complex I deficiency NGS genetic test?
It is a targeted next-generation sequencing test that detects mutations in the MT-ND3 gene, which is associated with mitochondrial complex I deficiency. It is offered by DNA Labs India.
What is the cost of this test?
The cost of the MT-ND3 Gene Mitochondrial Complex I Deficiency NGS Genetic Test is INR 20,000, including sample collection, DNA extraction, NGS analysis, and clinical report.
What sample is required for this test?
The sample can be whole blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long will the test report take?
Reports are usually delivered within 3 to 4 weeks.
Does the test require a doctor's prescription?
It is recommended to have a referral from a neurologist or clinical geneticist and a genetic counselling session before testing.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection for online bookings across many cities in India.
What does NGS mean?
NGS stands for Next-Generation Sequencing, a technology used to rapidly analyze DNA sequences with high sensitivity.
Will I receive raw sequencing data along with the report?
Yes, if requested. DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the MT-ND3 gene, but it does not rule out mitochondrial disease caused by other genes.
Which patients should undergo this test?
Patients with muscle weakness, poor coordination, vision or hearing problems, developmental delays, or a family history of mitochondrial complex I deficiency may be candidates.
How should I book this test?
You can book online on the DNA Labs India website, or contact customer support for home sample collection.
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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