MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic Test
Short Name: MT-ATP6 Deficiency NGS Test
Also known as: MT-ATP6 Gene Sequencing, Mitochondrial Complex V Deficiency Genetic Test, ATP Synthase Deficiency NGS Panel
MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency 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 typically available in 3 to 4 weeks after sample receipt. In urgent cases, a preliminary report may be issued earlier, but confirmatory analysis may take full 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 primary purpose of this test is to identify pathogenic variants in the MT-ATP6 gene that cause mitochondrial complex V (ATP synthase) deficiency. It is indicated for individuals presenting with clinical features suggestive of mitochondrial disease, including muscle weakness, fatigue, seizures, developmental delay, and sensorineural hearing loss or optic atrophy. The test also helps confirm a suspected clinical diagnosis, differentiate from other mitochondrial cytopathies, guide management and treatment decisions, and provide crucial information for genetic counseling and recurrence risk assessment in at-risk families.
- Test Code
- 4320
- CPT Code
- 81401
- ICD Code
- E88.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available in 3 to 4 weeks after sample receipt. In urgent cases, a preliminary report may be issued earlier, but confirmatory analysis may take full 4 weeks.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counseling session is recommended before testing to understand the scope and implications of the test. The patient should provide a detailed clinical history and information about affected family members.
Method: Venipuncture or FTA card spot
Laboratory Analysis
When using blood, a routine venipuncture is performed by a trained phlebotomist. For FTA card sampling, a few drops of blood are placed on the card and allowed to air dry. The procedure is minimally invasive and safe for all ages.
Report Delivery
There are no special precautions after sample collection. The patient can resume normal activities. The sample should be transported to the laboratory at ambient temperature in the provided transport container.
Timeline: Reports are typically available in 3 to 4 weeks after sample receipt. In urgent cases, a preliminary report may be issued earlier, but confirmatory analysis may take full 4 weeks.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic variants in the MT-ATP6 gene that cause mitochondrial complex V (ATP synthase) deficiency. It is indicated for individuals presenting with clinical features suggestive of mitochondrial disease, including muscle weakness, fatigue, seizures, developmental delay, and sensorineural hearing loss or optic atrophy. The test also helps confirm a suspected clinical diagnosis, differentiate from other mitochondrial cytopathies, guide management and treatment decisions, and provide crucial information for genetic counseling and recurrence risk assessment in at-risk families.
How to Prepare
- Blood to be collected in EDTA vacutainer (2-3 ml)
- Alternatively, 2-3 drops of blood can be placed on the FTA card and dried for 30 minutes
- Label the sample with patient ID and date of collection
- Maintain ambient room temperature during transport
- Do not freeze or expose to extreme heat
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MT-ATP6 deficiency often presents early in life and may be mistaken for other neurological disorders. Genetic confirmation is essential to guide management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Unlabeled or mislabeled samples
- Samples exposed to freeze-thaw cycles or high temperatures
- Insufficient sample volume
Understanding Your Results
Test reveals an absence of known disease-causing mutations in the MT-ATP6 gene. A genetic cause of complex V deficiency is not identified in this gene, but other mitochondrial or nuclear genes may be responsible.
Clinical action: Consider broader mitochondrial gene panel or whole mitochondrial genome sequencing, and consult a clinical geneticist.
A disease-causing mutation in MT-ATP6 has been identified. Heteroplasmy percentage correlates with symptom severity and clinical outcome.
Clinical action: Confirm diagnosis of ATP synthase deficiency. Provide recurrence risk counseling and discuss family screening.
A variant that has not yet been established as disease-causing or benign.
Clinical action: Additional family member testing and functional assays may be needed to determine significance. Clinical correlation with symptoms is essential.
Consult your physician or a clinical geneticist if you or your child experience unexplained muscle weakness, recurrent seizures, developmental delay, loss of coordination, or if there is a family history of mitochondrial disorder. Genetic counseling is recommended before testing to understand benefits, risks, and interpretation of results.
Limitations
- ⚠NGS does not reliably detect large mitochondrial DNA deletions or deep intronic variants
- ⚠Variants of uncertain significance (VUS) may be reported and require further functional studies
- ⚠Test does not assess nuclear-encoded mitochondrial genes
- ⚠Heteroplasmy levels below 10% may not be detected depending on coverage
Risks & Considerations
- ●There are no significant risks associated with blood sampling; slight bruising or pain at the puncture site may occur.
- ●FTA card sampling may cause minor discomfort during the finger prick.
- ●Psychological stress from receiving a genetic diagnosis; genetic counseling is available to support patients and families.
Interfering Factors
- ●Poor DNA quality or degradation from improperly stored samples
- ●Maternal contamination if DNA extraction is not performed correctly
- ●Low heteroplasmy levels (below detection threshold) may cause false-negative results
Compare With Similar Tests
| Test | MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic Test | MT-ATP6 Gene NGS Test (this test) | Mitochondrial Whole Genome Sequencing | Nuclear Mitochondrial Gene Panel |
|---|---|---|---|---|
| Comparison | MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic Test |
Frequently Asked Questions
What is the MT-ATP6 gene mitochondrial complex V deficiency?
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