ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic Test
Short Name: ATP5F1A Gene NGS
Also known as: ATP5F1A-Related Mitochondrial Complex V Deficiency, ATP5F1A Full Gene Sequencing, Mitochondrial Complex V Deficiency Nuclear Type 4 Genetic Test
ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Full gene sequencing of ATP5F1A on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. 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-based test is to identify a disease-causing variant in the ATP5F1A gene in patients presenting with clinical features of nuclear type 4 mitochondrial complex V deficiency. Early molecular diagnosis helps guide prognosis, management, and genetic counselling.
- Test Code
- 4322
- CPT Code
- 81479
- ICD Code
- E88.49
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Full gene sequencing of ATP5F1A
Sample Collection
A genetic counselling session will be arranged for the patient and family. Please bring all relevant clinical records, previous biochemical test results, and a referral note documenting the treating physician's details.
Method: Venipuncture / FTA spot
Laboratory Analysis
A blood sample will be collected by venipuncture. If using an FTA card, one drop of blood from a fingertip or heel prick is placed on the card and allowed to air dry.
Report Delivery
No restrictions are required after sample collection. For FTA card samples, ensure the card is kept dry and sealed in a protective pouch before transport.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS-based test is to identify a disease-causing variant in the ATP5F1A gene in patients presenting with clinical features of nuclear type 4 mitochondrial complex V deficiency. Early molecular diagnosis helps guide prognosis, management, and genetic counselling.
How to Prepare
- No special preparation is needed for this test.
- No fasting is required.
- Inform the laboratory about any history of bone marrow transplantation to avoid donor-derived DNA results.
- Complete the consent form and clinical questionnaire.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for mitochondrial complex V deficiency is important for families who need recurrence-risk counselling. A molecular diagnosis allows parents to make informed reproductive decisions and helps coordinate multidisciplinary care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Unlabelled or incorrectly labelled sample
- FTA card contaminated or exposed to moisture
Understanding Your Results
Positive – pathogenic variant detected
The result supports the molecular diagnosis of ATP5F1A-related mitochondrial complex V deficiency, nuclear type 4.
Action: Clinical management, metabolic monitoring, and family segregation testing.
Negative – no pathogenic variant detected
No disease-causing variant was found in the ATP5F1A gene.
Action: Consider alternative genetic and biochemical causes if clinical suspicion remains high.
Variant of uncertain significance (VUS) identified
A genetic variant was found but its impact on disease is not yet known.
Action: Additional family testing, functional studies, or reclassification may be recommended.
If symptoms suggest mitochondrial disease or if genetic testing reveals a pathogenic variant, recurrence risk, family planning, and treatment options should be discussed with a clinical geneticist or specialist physician.
Limitations
- ⚠This test only analyzes the ATP5F1A gene. Pathogenic variants in other mitochondrial complex V subunits or mitochondrial DNA are not evaluated.
- ⚠Large deletions, duplications, or structural rearrangements may not be reliably detected by standard NGS analysis.
- ⚠Non-coding regulatory variants may not be identified by coding region sequencing.
- ⚠A negative result does not fully exclude mitochondrial complex V deficiency; further investigations may be needed.
Risks & Considerations
- ●Minimal pain or bruising at the venipuncture site
- ●No radiation exposure
- ●No ethical risk when performed with proper counselling and consent
Interfering Factors
- ●Hemolysis during venipuncture
- ●Contamination of FTA card
- ●Sample degradation due to heat or humidity
- ●Incorrect sample labelling
- ●Incomplete clinical information
Compare With Similar Tests
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| Comparison | ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic Test |
Frequently Asked Questions
What does the ATP5F1A gene do?
What is mitochondrial complex V deficiency, nuclear type 4?
Why is NGS used for this test?
Who should consider this test?
What sample is needed?
Is fasting required before sample collection?
How long does it take to get the report?
What does a positive result mean?
Can a negative result exclude the disorder?
Is home sample collection available?
Will I receive genetic counselling as part of this test?
What is the total cost of this test?
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Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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