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MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test

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MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test

MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. 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

To identify pathogenic variants in the MARS2 gene for diagnosis of Combined oxidative phosphorylation deficiency type 25.

Test Code
1940
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Provide detailed clinical history and family history. Attend a genetic counseling session to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection and NGS analysis.
3
After the Test:Report generation and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To identify pathogenic variants in the MARS2 gene for diagnosis of Combined oxidative phosphorylation deficiency type 25.

How to Prepare

  • Inform the lab about any medications
  • Ensure proper sample labeling
  • Transport sample at ambient temperature

Doctor's Notes

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

"This NGS test is essential for confirming COXPD type 25 in symptomatic patients and guiding management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MARS2 gene.
Positive result: Pathogenic variant detected, confirm diagnosis of COXPD type 25.
Negative result: No pathogenic variant detected, but clinical symptoms may require further testing.
Variant of uncertain significance: Requires additional evaluation and genetic counseling.
⚠️ When to Consult a Doctor:

If you experience symptoms such as chronic fatigue, muscle weakness, developmental delays, or have a family history of mitochondrial disorders.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential anxiety from test results

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Hemolysis

Compare With Similar Tests

TestMARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic TestWhole Exome SequencingMitochondrial DNA Sequencing
ComparisonMARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test

Frequently Asked Questions

What is Combined oxidative phosphorylation deficiency type 25?
Combined oxidative phosphorylation deficiency type 25 (COXPD type 25) is a mitochondrial disorder caused by mutations in the MARS2 gene, affecting energy production in cells.
What gene is involved in COXPD type 25?
The MARS2 gene is involved in COXPD type 25, and mutations in this gene can lead to the disorder.
What are the common symptoms of COXPD type 25?
Common symptoms include weakness and fatigue, myopathy, developmental delay, speech difficulties, visual impairment, seizures, intellectual disability, ataxia, and hypertrophic cardiomyopathy.
How is COXPD type 25 diagnosed?
COXPD type 25 is diagnosed through genetic testing, such as Next-Generation Sequencing (NGS), which can detect mutations in the MARS2 gene.
What is the cost of the MARS2 Gene NGS Genetic Test in India?
The cost of the MARS2 Gene NGS Genetic Test in India is approximately INR 20,000, though it may vary by laboratory and location.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to receive the test results?
Test results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling necessary before testing?
Yes, a genetic counseling session is recommended to draw a pedigree chart and understand the implications of the test.
Who should consider getting this test?
Individuals with symptoms of mitochondrial disorders, developmental delays, seizures, muscle weakness, or a family history of COXPD type 25 should consider this test.
What does the NGS test involve?
The NGS test involves analyzing the MARS2 gene using Next-Generation Sequencing technology to detect genetic variants associated with COXPD type 25.
Are there any risks associated with the test?
The risks are minimal, primarily related to blood draw, such as slight pain or bruising. Psychological anxiety from results may also occur.
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

Reference Laboratory Services

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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✓ 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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