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COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic Test

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COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic Test

Short Name: COQ9 NGS Test

Also known as: COQ9 deficiency, CoQ10 deficiency type 5, Coenzyme Q10 deficiency type 5

COQ9 Gene Coenzyme Q10 deficiency type 5 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 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 detect mutations in the COQ9 gene responsible for Coenzyme Q10 Deficiency Type 5. It aids in confirming diagnosis for patients with neurological symptoms, guiding treatment plans such as CoQ10 supplementation, and supporting genetic counseling for families at risk.

Test Code
1563
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 specific preparation required. Ensure clinical history and genetic counseling session are completed as per pre-test information.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a drop of blood is collected on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to draw a pedigree chart and discuss implications. Provide detailed clinical history.
2
During the Test:Sample collection performed at home or clinic. Analysis involves DNA extraction and NGS sequencing in the laboratory.
3
After the Test:Results delivered in 3-4 weeks. Follow-up with a geneticist or neurologist for interpretation and management planning.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the COQ9 gene responsible for Coenzyme Q10 Deficiency Type 5. It aids in confirming diagnosis for patients with neurological symptoms, guiding treatment plans such as CoQ10 supplementation, and supporting genetic counseling for families at risk.

How to Prepare

  • Use aseptic technique for blood collection
  • Label sample correctly with patient details
  • Store blood at ambient room temperature if not processing immediately
  • For FTA card, ensure proper drying before packaging

Doctor's Notes

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

"This NGS genetic test is essential for confirming diagnosis in patients with suspected COQ9-related CoQ10 deficiency, guiding treatment and genetic counseling for neurological symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or contamination

Understanding Your Results

Interpretation of results should be performed by a qualified geneticist or neurologist in the context of clinical symptoms and family history.
Positive result: Detection of pathogenic variants confirms diagnosis of CoQ10 deficiency type 5.
Negative result: No pathogenic variants detected; does not fully exclude other genetic causes.
Variant of uncertain significance (VUS): Requires further evaluation and genetic counseling.
Results should be correlated with CoQ10 levels in blood or tissues if available.
⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms like muscle weakness, seizures, or developmental delays persist, worsen, or if there is a family history of CoQ10 deficiency.

Limitations

  • ⚠May not detect all possible genetic variations or structural rearrangements
  • ⚠Requires correlation with clinical symptoms and genetic counseling
  • ⚠Results are not predictive for all cases due to genetic heterogeneity

Risks & Considerations

  • ●Psychological impact of genetic diagnosis
  • ●Risk of incidental findings unrelated to the condition
  • ●Minimal physical risk from blood collection (bruising, infection)

Interfering Factors

  • ●Poor DNA quality or degradation
  • ●Sample contamination during collection
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestCOQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic TestCOQ2 Gene NGS TestMitochondrial DNA SequencingWhole Exome SequencingCoQ10 Level Blood Test
ComparisonCOQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic Test

Frequently Asked Questions

What is COQ9 Gene Coenzyme Q10 Deficiency Type 5?
It is a rare genetic disorder caused by mutations in the COQ9 gene, leading to impaired production of Coenzyme Q10, which is essential for energy production in cells, often resulting in neurological symptoms.
What are the common symptoms of this condition?
Symptoms include muscle weakness, developmental delays, seizures, intellectual disability, ataxia, fatigue, and abnormal eye movements, though they can vary widely among individuals.
How is the COQ9 Gene NGS Genetic Test performed?
The test involves analyzing a blood sample or extracted DNA using next-generation sequencing (NGS) to detect mutations in the COQ9 gene. It is a comprehensive and accurate method for diagnosis.
What is the cost of the test?
The cost is INR 20000.0, with free home sample collection available in many cities across India. The price may vary slightly by location.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities, including Mumbai, Delhi, Bangalore, and many others.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result indicate?
A positive result confirms the presence of pathogenic mutations in the COQ9 gene, diagnosing CoQ10 deficiency type 5. It guides treatment options like CoQ10 supplementation and genetic counseling.
Is genetic counseling required before taking the test?
Yes, a genetic counseling session is recommended to discuss the test implications, draw a pedigree chart, and understand the results for the patient and family.
Can this test detect all mutations related to CoQ10 deficiency?
The NGS test is comprehensive for the COQ9 gene but may not detect all possible genetic variations or structural changes. Clinical correlation is essential.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage depends on the specific insurance plan and provider. It is advisable to check with your insurance company or healthcare scheme for details.
What are the risks associated with genetic testing?
Risks include psychological stress from diagnosis, potential for incidental findings, and minimal physical risks from blood collection such as bruising. Genetic counseling helps mitigate these.
How accurate is the NGS technology used in this test?
NGS is a highly accurate and reliable technology for genetic testing, capable of analyzing large DNA segments with high sensitivity and specificity, making it ideal for diagnosing rare disorders like COQ9 deficiency.
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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