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MT-ND6 Gene Mitochondrial complex I deficiency NGS Genetic Test

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MT-ND6 Gene Mitochondrial complex I deficiency NGS Genetic Test

Short Name: MT-ND6 NGS Test

Also known as: MT-ND6 Gene Sequencing Test, Mitochondrial Complex I Deficiency MT-ND6 Panel, ND6 Mitochondrial Gene NGS Test

MT-ND6 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 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect pathogenic variants in the MT-ND6 gene, confirm a clinical diagnosis of mitochondrial complex I deficiency, and guide medical management and family counseling.

Test Code
4307
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)
Step 1

Sample Collection

No fasting is required. A genetic counseling session is recommended to draw a family pedigree and assess inheritance risk.

Method: Blood draw / FTA card blood spot / DNA sample

Step 2

Laboratory Analysis

A small blood sample is collected from a vein. If FTA card is used, a few drops of blood are placed on the card and allowed to dry.

Step 3

Report Delivery

The specimen is transported to the lab for processing. The report will be shared within 3 to 4 weeks.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. Please carry any previous reports and a valid doctor's prescription if available.
2
During the Test:A blood sample or FTA card sample will be collected. The procedure is quick and involves minimal discomfort.
3
After the Test:The sample is processed in the lab; reports are shared within 3 to 4 weeks. Genetic counseling is included.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the MT-ND6 gene, confirm a clinical diagnosis of mitochondrial complex I deficiency, and guide medical management and family counseling.

How to Prepare

  • No fasting is required.
  • The sample can be taken at any time of the day.
  • If using FTA card, allow the blood spot to air dry before placing it in the provided envelope.
  • For extracted DNA, provide concentration and purity information if available.

Doctor's Notes

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

"The clinical phenotype of mitochondrial complex I deficiency can be highly variable. A molecular genetic test result should always be interpreted together with biochemical and radiological findings for optimal patient care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required by collection protocol
ContainerEDTA tube, FTA card, or DNA vial
Collection MethodBlood draw / FTA card blood spot / DNA sample

Sample Stability

Whole blood in EDTA: 24-72 hours at room temperature.
FTA card blood spots: Stable for weeks at room temperature.
Extracted DNA: Stable at -20°C or below.
Sample Rejection Criteria:
  • Haemolysed or frozen whole blood
  • Improperly labelled samples
  • Incomplete clinical history
  • Insufficient sample quantity

Understanding Your Results

The result of this test is not a diagnosis by itself. A qualified clinical geneticist will interpret the genomic findings in the context of the patient's clinical features, family history, and biochemical profile.
📊

No pathogenic variant detected

A molecular cause in MT-ND6 was not found. Additional mitochondrial or nuclear gene testing may be considered.

📊

Pathogenic variant detected

The variant is known to cause disease and is consistent with mitochondrial complex I deficiency.

📊

Likely pathogenic variant detected

The variant is highly suspected to be disease-causing; clinical correlation is required.

📊

Variant of uncertain significance (VUS) detected

The variant cannot yet be classified as benign or pathogenic; further family studies may be helpful.

⚠️ When to Consult a Doctor:

If you or a family member have symptoms suggestive of mitochondrial complex I deficiency, or if the test reveals a likely pathogenic/pathogenic variant, consult your referring physician or a clinical geneticist.

Limitations

  • This test covers only the MT-ND6 gene and does not assess other mitochondrial or nuclear complex I genes.
  • Standard NGS may not reliably detect large deletions, duplications, or structural rearrangements.
  • Variant interpretation may be inconclusive for variants of uncertain significance.
  • The absence of a pathogenic variant does not exclude mitochondrial disease.

Risks & Considerations

  • No significant physical risk.
  • Minimal discomfort from blood draw.
  • Rare chance of bruising or light-headedness.

Interfering Factors

  • Recent blood transfusion or bone marrow transplant may cause mixed DNA results.
  • Maternal cell contamination in the sample affects mitochondrial DNA analysis.
  • Poor DNA quality or quantity can reduce assay sensitivity.
  • Very low levels of mutant mitochondrial DNA (heteroplasmy) may fall below the detection threshold.

Compare With Similar Tests

TestMT-ND6 Gene Mitochondrial complex I deficiency NGS Genetic TestMT-ND6 Targeted NGS TestWhole Mitochondrial Genome Sequencing
ComparisonMT-ND6 Gene Mitochondrial complex I deficiency NGS Genetic Test

Frequently Asked Questions

What is the price of the MT-ND6 gene mitochondrial complex I deficiency NGS genetic test at DNA Labs India?
The test costs INR 20000, which includes the genetic test, result interpretation, and genetic counseling.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card is accepted.
Does this test require fasting?
No, fasting is not required for this test.
How long will it take to get the report?
Reports are usually available within 3 to 4 weeks after the sample reaches the lab.
What symptoms may prompt this test?
Symptoms include developmental delay, seizures, muscle weakness, cardiomyopathy, liver dysfunction, respiratory problems, visual/hearing impairment, and intellectual disability.
What technology is used for this test?
Next-generation sequencing (NGS) is used to analyse the MT-ND6 gene.
Will I receive raw data with the report?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across major cities in India.
Do I need genetic counseling before testing?
A genetic counseling session is recommended to draw a pedigree chart of affected family members. This is part of the pre-test process.
What does a negative MT-ND6 result mean?
A negative result means no pathogenic variant was detected in MT-ND6, but it cannot completely rule out mitochondrial disease.
Can this test detect all mitochondrial complex I disorders?
No. This test only covers the MT-ND6 gene. Other complex I genes may require additional testing.
Who should order this test?
This test is usually ordered by a neurologist, clinical geneticist, or treating physician after a clinical evaluation.
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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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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