VARS2 Gene Combined oxidative phosphorylation deficiency type 20 NGS Genetic Test
Short Name: VARS2 Gene COXPD Type 20 NGS Test
Also known as: COXPD Type 20, VARS2-related COXPD, VARS2 Gene Mutation Test
VARS2 Gene Combined oxidative phosphorylation deficiency type 20 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 20 by identifying pathogenic mutations in the VARS2 gene, facilitating early diagnosis, treatment planning, and genetic counseling.
- Test Code
- 1932
- 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
Ensure proper genetic counseling and informed consent. No special preparation required.
Method: Venipuncture or Fingerprick
Laboratory Analysis
Follow standard phlebotomy procedures for blood sample collection.
Report Delivery
Label samples correctly and transport to the laboratory under stable conditions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 20 by identifying pathogenic mutations in the VARS2 gene, facilitating early diagnosis, treatment planning, and genetic counseling.
How to Prepare
- Use sterile collection tubes
- Avoid hemolysis
- Store at room temperature if using FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing is crucial for diagnosing COXPD type 20, enabling timely management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Improper labeling
Understanding Your Results
Positive
Pathogenic variant detected, indicating COXPD type 20 diagnosis
Negative
No pathogenic variants detected, but clinical correlation is advised
Variant of Uncertain Significance
Further testing and genetic counseling recommended
If symptoms of COXPD type 20 are present or if there is a family history of mitochondrial disorders.
Limitations
- ⚠May not detect all genetic variants; requires genetic counseling
- ⚠Results should be correlated with clinical presentation
Risks & Considerations
- ●Psychological impact of genetic results
- ●Minimal physical risk from blood collection
Interfering Factors
- ●Sample degradation
- ●Contamination during collection
Frequently Asked Questions
What is COXPD type 20?
What are the common symptoms of COXPD type 20?
How is COXPD type 20 diagnosed?
What does the VARS2 Gene NGS Genetic Test involve?
What is the cost of the test at DNA Labs India?
Is home sample collection available for this test?
How long does it take to receive results?
What should I do if the test result is positive?
Are there any risks associated with the genetic test?
Can this test be performed on children or infants?
What other tests are related to COXPD type 20?
How should I prepare for the test?
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