BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic Test
Short Name: BOLA3 NGS Test
Also known as: BOLA3 Gene Sequencing, MMDS Type 2 Genetic Test, BOLA3 Mutation Analysis
BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or Dried Blood Spot on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory. A provisional report may be issued earlier if clinically urgent.. 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
Identify pathogenic mutations in the BOLA3 gene to confirm the diagnosis of Multiple Mitochondrial Dysfunctions Syndrome Type 2 in individuals presenting with neurological symptoms and to facilitate genetic counselling and family risk assessment.
- Test Code
- 4340
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or Dried Blood Spot on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory. A provisional report may be issued earlier if clinically urgent.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Inform your referring physician about all medications and supplements. A genetic counseling session is recommended before the test to review family history and expectations.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A peripheral blood sample is drawn by a trained phlebotomist. Alternatively, a few drops of blood are placed on an FTA card for dried blood spot collection. The procedure takes about 10 minutes.
Report Delivery
No specific precautions are necessary. You may resume normal activities immediately after sample collection.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory. A provisional report may be issued earlier if clinically urgent.
Patient Instructions
About This Test
Who Should Get This Test
Identify pathogenic mutations in the BOLA3 gene to confirm the diagnosis of Multiple Mitochondrial Dysfunctions Syndrome Type 2 in individuals presenting with neurological symptoms and to facilitate genetic counselling and family risk assessment.
How to Prepare
- Ensure the sample is collected in an EDTA vacutainer if blood is provided.
- If using FTA card, allow the card to air dry completely before sealing in the provided envelope.
- Label the sample with the patient's full name, date of birth, date and time of collection.
- Ship the sample to the laboratory at ambient temperature if using FTA card; blood samples must be refrigerated and couriered within 24-48 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A detailed clinical evaluation is crucial to interpret genetic findings in the context of the patient's neurological symptoms. This NGS test provides a definitive molecular diagnosis for MMDS2 and enables appropriate counselling of families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample received after 72 hours at room temperature without refrigeration
- Unlabeled or mislabeled sample
- Sample received in a non-EDTA container
- Inadequate DNA quantity for analysis
Understanding Your Results
Negative
No pathogenic or likely pathogenic variants were identified in the BOLA3 gene. This does not completely exclude MMDS2; other genetic causes of mitochondrial dysfunction should be considered.
Positive
A pathogenic or likely pathogenic variant was identified in the BOLA3 gene, confirming the molecular diagnosis of MMDS2.
Variant of Uncertain Significance (VUS)
A VUS was identified. Additional family studies, RNA analysis, or functional assays may be recommended to determine its clinical significance.
If the test result is positive, consult a clinical geneticist or neurologist for disease management and family counselling. If symptoms persist despite a negative result, further investigations and clinical re-evaluation are advised.
Limitations
- ⚠This test analyses the BOLA3 gene only and does not rule out variants in other mitochondrial or nuclear genes.
- ⚠Regulatory, deep intronic or large structural rearrangements may not be detected by this NGS approach.
- ⚠Variants of uncertain significance (VUS) require further family studies and functional evidence.
- ⚠A negative result does not exclude the diagnosis of MMDS2 if clinical suspicion is high; additional testing may be required.
Risks & Considerations
- ●Mild bruising or discomfort at the venepuncture site
- ●Dizziness or fainting during blood collection (rare)
- ●No significant medical risks associated with FTA card collection
Interfering Factors
- ●Sample contamination with maternal cells
- ●Poor DNA quality or quantity
- ●Presence of pseudogenes or homologous sequences
- ●Incomplete coverage of all exons due to sequencing gaps
- ●Incorrect sample labelling or mismatch
Compare With Similar Tests
| Test | BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic Test | BOLA3 Gene NGS Test | Nuclear Mitochondrial Gene Panel | Whole Exome Sequencing (WES) | Mitochondrial DNA (MT-DNA) Whole Genome NGS Test |
|---|---|---|---|---|---|
| Comparison | BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the BOLA3 gene NGS genetic test?
What is BOLA3 gene multiple mitochondrial dysfunctions syndrome type 2?
What are the common symptoms of MMDS2?
What kind of sample is required for this test?
Is fasting required before sample collection?
What is the turnaround time for reports?
Is home sample collection available?
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