COQ6 Gene Coenzyme Q10 deficiency type 6 NGS Genetic Test
Also known as: COQ6 gene test, CoQ10 deficiency type 6 genetic test, COQ6 NGS test
COQ6 Gene Coenzyme Q10 deficiency type 6 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the COQ6 Gene Coenzyme Q10 Deficiency Type 6 NGS Genetic Test is to diagnose Coenzyme Q10 Deficiency Type 6 by detecting mutations in the COQ6 gene, which is responsible for CoQ10 production. This helps in confirming the underlying cause of symptoms, guiding treatment decisions, and enabling genetic counseling for affected families.
- Test Code
- 4651
- 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
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with Coenzyme Q10 deficiency type 6.
Method: Blood draw or saliva collection
Laboratory Analysis
A blood sample or saliva sample is collected using standard procedures. For blood, a venipuncture is performed; for saliva, a swab is used.
Report Delivery
Apply pressure to the puncture site if blood is drawn. Store samples as instructed and await results.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the COQ6 Gene Coenzyme Q10 Deficiency Type 6 NGS Genetic Test is to diagnose Coenzyme Q10 Deficiency Type 6 by detecting mutations in the COQ6 gene, which is responsible for CoQ10 production. This helps in confirming the underlying cause of symptoms, guiding treatment decisions, and enabling genetic counseling for affected families.
How to Prepare
- Use sterile equipment
- Label samples correctly
- Transport at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of Coenzyme Q10 Deficiency Type 6. Consult a genetic specialist for management.
Negative for pathogenic variants
No mutations detected in the COQ6 gene. Consider other causes if symptoms persist.
Variant of uncertain significance
Genetic change found but clinical significance unknown. Further testing or family studies may be needed.
Consult a doctor if you experience symptoms such as muscle weakness, fatigue, seizures, developmental delays, or have a family history of CoQ10 deficiency. Early diagnosis can improve management outcomes.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●No significant risks from saliva collection
Interfering Factors
- ●Sample contamination
- ●Improper sample storage
Frequently Asked Questions
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