VDAC1 Gene Encephalopathy mitochondrial NGS Genetic Test
Short Name: VDAC1 NGS Genetic Test
Also known as: VDAC1 Gene Mutation Analysis, Voltage-Dependent Anion Channel 1 Genetic Test, Mitochondrial Encephalopathy NGS Panel
VDAC1 Gene Encephalopathy mitochondrial NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Samples received by the lab are processed. Reports are typically issued within 3 to 4 weeks from the date the lab receives the sample.. 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 primary purpose of this NGS genetic test is to detect pathogenic variants in the VDAC1 gene that cause mitochondrial encephalopathy. The test establishes a definitive molecular diagnosis, enables accurate genetic counseling, guides patient management, and allows reproductive risk assessment for affected families.
- Test Code
- 4054
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Samples received by the lab are processed. Reports are typically issued within 3 to 4 weeks from the date the lab receives the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. However, a doctor's referral or genetic counseling session is recommended before undergoing testing.
Method: Venipuncture or Finger Prick
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in the arm. If using an FTA card, a small drop of blood is applied onto the card.
Report Delivery
You may resume normal activities immediately. No specific aftercare is needed.
Timeline: Samples received by the lab are processed. Reports are typically issued within 3 to 4 weeks from the date the lab receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the VDAC1 gene that cause mitochondrial encephalopathy. The test establishes a definitive molecular diagnosis, enables accurate genetic counseling, guides patient management, and allows reproductive risk assessment for affected families.
How to Prepare
- For blood sample: Collect in EDTA vacutainer (purple top) and mix gently.
- For FTA card: Apply blood drops to the card, air dry, and place in a protective envelope.
- Label the sample with patient's full name, date, and time of collection.
- Transport the sample at ambient temperature to the lab within 24-48 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for mitochondrial encephalopathy should always be accompanied by pre-test and post-test genetic counseling. Positive results can have significant implications for the patient and their family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or frozen whole blood
- Sample tube broken or leaking
- Insufficient sample volume
- Unlabelled or mislabelled sample
- Exposure to extreme heat
Understanding Your Results
Negative
No pathogenic variant was identified in the VDAC1 gene. This does not exclude mitochondrial encephalopathy caused by mutations in other genes. Clinical evaluation may continue for other causes.
Positive
A pathogenic variant was identified in the VDAC1 gene, confirming the molecular diagnosis of VDAC1-associated encephalopathy. Genetic counseling is recommended.
Variant of Uncertain Significance (VUS)
A DNA change was found, but its clinical significance is unknown. Additional family testing or functional studies may be required to reclassify this variant.
Consult a clinical geneticist or a neurologist if the test result is positive, if symptoms persist despite a negative result, or if you have a family history of mitochondrial diseases. Reproductive counselling is also advised for affected families.
Limitations
- ⚠This test is specifically for the VDAC1 gene and may not identify mutations in other genes related to mitochondrial encephalopathy.
- ⚠NGS may not reliably detect large deletions, duplications, or repeat expansions.
- ⚠Variants of uncertain significance (VUS) may be reported; these cannot be used for clinical decision-making until further evidence is available.
- ⚠Test results should be interpreted in the context of the patient's clinical presentation and family history.
Risks & Considerations
- ●No major medical risks from a blood draw. Risks include brief bleeding, bruising, or infection at the puncture site.
Interfering Factors
- ●Sample contamination with non-blood cells
- ●Poor DNA quality or quantity
- ●Prior allogeneic bone marrow transplant (for blood-derived DNA)
- ●Rare genetic variant outside sequenced region
Compare With Similar Tests
| Test | VDAC1 Gene Encephalopathy mitochondrial NGS Genetic Test | Whole Exome Sequencing | mtDNA Genome Sequencing | POLG Gene Test |
|---|---|---|---|---|
| Comparison | VDAC1 Gene Encephalopathy mitochondrial NGS Genetic Test |
Frequently Asked Questions
What is the VDAC1 gene encephalopathy NGS genetic test?
What is the cost of this test?
Is fasting required before the test?
What type of sample is needed?
How long will the reports take?
Can this test detect all causes of mitochondrial encephalopathy?
Is pre-test genetic counseling required?
Does DNA Labs India provide raw data files?
Is this test covered by insurance?
What does a positive test result mean?
Can this test be performed during pregnancy?
How accurate is the NGS test for VDAC1 mutations?
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Reference Laboratory Services
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