MT-CYB Gene Mitochondrial encephalomyopathy NGS Genetic Test
Short Name: MT-CYB Encephalomyopathy NGS Test
Also known as: MT-CYB Gene Test, Cytochrome b Genetic Test, MT-CYB Mutation Analysis, Mitochondrial Encephalomyopathy NGS Test
MT-CYB Gene Mitochondrial encephalomyopathy 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 Reports are generally available 3 to 4 weeks after the sample reaches 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 variants in the MT-CYB gene that may explain features of mitochondrial encephalomyopathy, support the clinical diagnosis, and provide a basis for further medical management and genetic counselling.
- Test Code
- 4331
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Clinical history of the patient and a pedigree chart of family members affected with MT-CYB gene mitochondrial encephalomyopathy should be provided when possible. Please inform the laboratory about any known mitochondrial disorder in the family.
Method: Blood draw / FTA card blood spot / Extracted DNA submission
Laboratory Analysis
A blood sample is collected from a vein under sterile conditions, or a few drops of blood are placed on the FTA card. If extracted DNA is submitted, it should be clearly labelled and transported according to laboratory instructions.
Report Delivery
The sample is transported to the DNA Labs India laboratory for NGS processing. The report is generally available in 3 to 4 weeks. Clinical interpretation and raw data files will be shared with the patient and referring doctor.
Timeline: Reports are generally available 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the MT-CYB gene that may explain features of mitochondrial encephalomyopathy, support the clinical diagnosis, and provide a basis for further medical management and genetic counselling.
How to Prepare
- Ensure the specimen is labelled with full name, date of birth and collection date
- Book online for free home sample collection where available
- If submitting extracted DNA, provide source and concentration details if available
- Inform the laboratory about any family history of mitochondrial disease
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MT-CYB related mitochondrial encephalomyopathy may present with nonspecific neuromuscular symptoms. A thorough clinical work-up by a neurologist and a clinical geneticist is essential before and after testing. In the reproductive context, genetic counselling helps clarify recurrence risk and family planning options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Unlabelled or mislabelled specimen
- Sample exposed to extreme temperature or leakage during transport
- Insufficient specimen volume
Understanding Your Results
If you or a family member have unexplained muscle weakness, exercise intolerance, fatigue, seizures, breathing difficulty, or vision and hearing problems, consult a neurologist or clinical geneticist. This test should be ordered and interpreted by a doctor with experience in mitochondrial or inherited neurological disorders.
Limitations
- ⚠Targeted NGS analysis of MT-CYB may not detect large mtDNA deletions, depletion, or variants in nuclear genes associated with mitochondrial disorders
- ⚠Heteroplasmy levels below the assay detection limit may produce false-negative results
- ⚠Variants of uncertain significance may require family studies and segregation analysis
- ⚠This test does not rule out all mitochondrial diseases
- ⚠Results should be interpreted by a qualified geneticist or clinician in the context of the full clinical picture
Risks & Considerations
- ●Minor bruising or pain at the blood collection site
- ●Rare risk of bleeding, infection, or vasovagal response during blood collection
Interfering Factors
- ●Poor sample quality or degraded DNA
- ●Low-level mtDNA heteroplasmy below the analytical sensitivity of NGS
- ●Contamination during sample collection or processing
- ●Presence of variants in nuclear genes or other mtDNA regions not covered by this targeted test
Frequently Asked Questions
What is the cost of MT-CYB gene mitochondrial encephalomyopathy NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the report?
Where is home sample collection available?
Why is genetic testing needed for mitochondrial encephalomyopathy?
What are raw data, FASTQ, and VCF files?
Can this test detect all mitochondrial diseases?
What is MT-CYB mitochondrial encephalomyopathy?
Is genetic counselling needed before testing?
Does health insurance cover this genetic test?
Who should order this test?
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