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COQ2 Gene Coenzyme Q10 deficiency type 1 NGS Genetic Test

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COQ2 Gene Coenzyme Q10 deficiency type 1 NGS Genetic Test

Short Name: COQ2 Gene Test

Also known as: Primary coenzyme Q10 deficiency, COQ2-related coenzyme Q10 deficiency

COQ2 Gene Coenzyme Q10 deficiency type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose Coenzyme Q10 deficiency type 1 by identifying pathogenic mutations in the COQ2 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
1573
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation needed. Provide clinical history and undergo genetic counseling.

Method: Venipuncture for blood

Step 2

Laboratory Analysis

Blood sample will be drawn from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand implications and draw a family pedigree chart.
2
During the Test:Sample collection via blood draw; procedure is minimally invasive.
3
After the Test:Wait for results as per turnaround time; follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Coenzyme Q10 deficiency type 1 by identifying pathogenic mutations in the COQ2 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This test confirms diagnosis of CoQ10 deficiency, guiding targeted treatment for neurological symptoms like seizures and ataxia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COQ2 gene.
📊

Positive for pathogenic variants

Confirms diagnosis of Coenzyme Q10 deficiency type 1. Consult genetic counselor for management.

📊

Negative for pathogenic variants

No variants detected; symptoms may be due to other causes. Consider further testing.

📊

Variant of uncertain significance

Further family studies and clinical evaluation recommended.

⚠️ When to Consult a Doctor:

If experiencing symptoms like seizures, muscle weakness, or developmental delays, or if there is a family history of CoQ10 deficiency.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor pain or bruising at blood draw site
  • ●Very low risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Frequently Asked Questions

What is Coenzyme Q10 deficiency type 1?
It is a rare genetic disorder caused by mutations in the COQ2 gene, leading to impaired energy production and neurological symptoms.
What are the common symptoms?
Symptoms include muscle weakness, seizures, developmental delay, intellectual disability, ataxia, cardiomyopathy, and renal dysfunction.
How is the test performed?
The test uses NGS technology to analyze the COQ2 gene from a blood or DNA sample.
What is the cost of the test?
The cost is INR 20000, which includes testing, analysis, and interpretation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is the test covered by insurance?
Most insurance plans cover genetic testing; check with your provider for specifics.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Can the test diagnose other conditions?
It specifically targets CoQ10 deficiency type 1; other genetic tests may be needed for related disorders.
What should I do before the test?
Provide clinical history and consider genetic counseling to understand the test implications.
How are results interpreted?
Results are classified as positive, negative, or variants of uncertain significance; consult a genetic counselor for guidance.
What are the risks of the test?
Risks are minimal, such as minor bruising from blood draw.
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.

LIMS Integration

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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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