IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic Test
Short Name: IBA57 Gene MMDS Type 3 NGS Test
Also known as: IBA57 Gene Mutation Analysis, MMDS Type 3 Genetic Test, IBA57 Gene Sequencing
IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card samples. Results in Reports are delivered within 3 to 4 weeks from sample receipt at the laboratory.. 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 NGS genetic test is to detect pathogenic mutations in the IBA57 gene that cause Multiple mitochondrial dysfunctions syndrome type 3. Genetic confirmation aids in establishing a precise diagnosis, allowing for appropriate medical surveillance, treatment planning, and recurrence risk counseling.
- Test Code
- 4342
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended before sample collection. Please provide a detailed clinical history of the patient and draw a pedigree chart of family members affected with MMDS. No fasting is required.
Method: Venipuncture or FTA card spot collection
Laboratory Analysis
A small amount of blood will be collected from a vein in the arm, or a few drops on an FTA card. The process usually takes less than 5 minutes.
Report Delivery
You may resume normal activities immediately. The sample will be transported to the laboratory under controlled conditions. Your report will be delivered in 3-4 weeks.
Timeline: Reports are delivered within 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the IBA57 gene that cause Multiple mitochondrial dysfunctions syndrome type 3. Genetic confirmation aids in establishing a precise diagnosis, allowing for appropriate medical surveillance, treatment planning, and recurrence risk counseling.
How to Prepare
- No special preparation such as fasting is required.
- For FTA card, apply one drop of blood onto the marked circle and air dry.
- Inform the lab about any prior genetic testing or relevant family history.
- Carry a copy of the prescription and any previous investigation reports.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The decision to pursue IBA57 genetic testing is best made in consultation with a clinical geneticist and obstetrician-gynecologist, particularly when there is a possibility of familial recurrence."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Incorrect sample label or missing requisition form
- Sample received after prolonged storage at room temperature (>7 days)
Understanding Your Results
Pathogenic/Likely pathogenic variant detected
Confirms the diagnosis of MMDS type 3 if symptoms are consistent.
Variant of uncertain significance (VUS) detected
Additional familial testing or functional studies may be needed to clarify significance.
No pathogenic variant detected
Does not confirm MMDS3; consider other genes or conditions.
Consult your referring physician or a geneticist if you receive a positive or uncertain result. Immediate medical advice should be sought for new seizures, worsening muscle weakness, or acute metabolic decompensation.
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Psychological distress due to unexpected genetic findings
- ●Potential need for confirmatory testing of family members
Interfering Factors
- ●Blood sample contamination with non-blood DNA
- ●Low DNA yield or degraded specimen
- ●Incomplete clinical information influencing test interpretation
Compare With Similar Tests
| Test | IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic Test | Whole Exome Sequencing | Mitochondrial Genome Sequencing | Nuclear Mitochondrial Gene Panel |
|---|---|---|---|---|
| Comparison | IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic Test |
Frequently Asked Questions
What is the IBA57 gene?
What is Multiple mitochondrial dysfunctions syndrome type 3?
What is the sensitivity of this NGS test?
Which sample is needed for the test?
Is fasting required before sample collection?
How long does it take to get the results?
What does the test cost?
Will I receive raw data files?
What is a genetic counseling session?
Can this test be used for prenatal diagnosis?
What do the results mean if no mutation is found?
How do I book this test at DNA Labs India?
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