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ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic Test

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ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic Test

Short Name: ATPAF2 Mitochondrial Complex V Deficiency NGS Test

Also known as: MT-ATP6 Gene Mutation Analysis, Mitochondrial ATP Synthase Deficiency Gene Test, ATPAF2 Gene Sequencing

ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Validation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. Test performance may be delayed if repeat analysis or family co-segregation studies are required.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the ATPAF2 gene NGS genetic test is to confirm a clinical suspicion of Mitochondrial Complex V Deficiency, nuclear type 1, caused by mutations in the ATPAF2 gene. The test helps in establishing a definitive molecular diagnosis, guiding disease management, enabling surveillance for associated complications, and informing genetic counseling for the patient and family members. It may also be used for carrier detection and reproductive risk assessment in families with an identified ATPAF2 mutation.

Test Code
4318
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. Test performance may be delayed if repeat analysis or family co-segregation studies are required.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Validation
Step 1

Sample Collection

No special preparation, fasting not required. For blood sample collection, the patient should be well-hydrated.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A small amount of venous blood is collected into an EDTA tube by a trained phlebotomist. For FTA card collection, one drop of blood from a fingertip prick is placed on the card and air-dried.

Step 3

Report Delivery

There are no restrictions; patient may resume normal activities immediately. Wear a bandage over the puncture site for a few hours if required.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. Test performance may be delayed if repeat analysis or family co-segregation studies are required.

Patient Instructions

1
Before the Test:The healthcare provider or genetic counselor will explain the test procedure, benefits, risks, and alternatives. A pedigree chart will be drawn to identify family members who may be affected or carriers.
2
During the Test:The patient provides a blood sample or FTA card spot, which is sent to the DNA Labs India facility for DNA extraction and NGS sequencing. No anesthesia or special preparation is needed.
3
After the Test:Once the report is ready, it will be shared with the referring physician. A genetic counseling session will be scheduled to discuss the results, implications for the patient and family, and possible interventions.

About This Test

Who Should Get This Test

The purpose of the ATPAF2 gene NGS genetic test is to confirm a clinical suspicion of Mitochondrial Complex V Deficiency, nuclear type 1, caused by mutations in the ATPAF2 gene. The test helps in establishing a definitive molecular diagnosis, guiding disease management, enabling surveillance for associated complications, and informing genetic counseling for the patient and family members. It may also be used for carrier detection and reproductive risk assessment in families with an identified ATPAF2 mutation.

How to Prepare

  • Blood sample in an EDTA vacutainer is preferred
  • For FTA card, ensure the blood spot is completely absorbed and allowed to dry without heat
  • Samples must be labeled correctly with patient name and date of birth
  • Transport at ambient temperature to maintain DNA integrity

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"For families with a history of mitochondrial disease, NGS-based genetic testing for ATPAF2 is recommended before conception or early in pregnancy to provide accurate recurrence risk counseling and reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml whole blood in EDTA tube; or 1 drop on FTA card
ContainerEDTA tube / FTA card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at 2-8°C
FTA card blood spot: stable for several weeks at room temperature
Extracted DNA: stable for months when stored at -20°C
Sample Rejection Criteria:
  • Hemolyzed or coagulated blood sample
  • Incorrect patient identification on the sample
  • Unlabeled or mislabeled sample
  • Insufficient sample quantity for DNA extraction

Understanding Your Results

Interpretation of NGS results is performed by clinical geneticists and correlated with the patient's clinical presentation and family history. Findings are classified as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign based on ACMG guidelines.
📊

Confirms the diagnosis of ATPAF2 gene-related Mitochondrial Complex V Deficiency, nuclear type 1. Genetic counseling is recommended.

Result type: Pathogenic variant detected

📊

The variant is not yet definitively associated with the disease; additional family studies may help establish causality.

Result type: Variant of uncertain significance (VUS)

📊

No disease-causing mutation was found in the ATPAF2 gene; other genetic causes should be considered.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

Consult a medical geneticist or neurologist if your child shows unexplained developmental delay, muscle weakness, seizures, or mitochondrial disease symptoms. Also consult if you have a family history of mitochondrial complex V deficiency or a known ATPAF2 gene mutation.

Limitations

  • ⚠NGS may not detect certain large deletions/insertions or deep intronic variants that affect splicing
  • ⚠The test only analyzes the ATPAF2 gene and does not evaluate other nuclear or mitochondrial genes linked to complex V deficiency
  • ⚠Variant of uncertain significance (VUS) results may require further family testing for interpretation
  • ⚠This test cannot determine the biochemical severity of the enzyme defect; functional assays may provide additional information

Risks & Considerations

  • ●No significant medical risks are associated with blood draw. Some patients may develop slight bruising or discomfort at the puncture site.

Interfering Factors

  • ●Sample contamination with another person's DNA
  • ●Clotted or hemolyzed blood sample
  • ●Inadequate DNA extraction or low-quality blood spot

Compare With Similar Tests

TestATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic TestTargeted ATPAF2 Gene TestMitochondrial Panel NGSWhole Exome Sequencing
ComparisonATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic Test

Frequently Asked Questions

What is the ATPAF2 gene?
The ATPAF2 gene provides instructions for producing a protein known as ATP synthase assembly factor 2. This protein plays a key role in building the mitochondrial ATP synthase complex (Complex V). Mutations in ATPAF2 disrupt this assembly, leading to impaired ATP production and cellular energy deficiency.
What is Mitochondrial Complex V (ATP synthase) deficiency?
It is a rare genetic condition in which the ATP synthase complex does not work properly, reducing the cell's ability to make ATP. The mitochondria are unable to generate adequate energy, particularly affecting organs with high energy demands such as the brain and muscles.
What are the common symptoms of ATPAF2-related mitochondrial complex V deficiency?
Symptoms vary but often include developmental delay, muscle weakness, low muscle tone (hypotonia), failure to thrive, swallowing difficulties, seizures, and intellectual disability. Some children may also develop lactic acidosis or cardiomyopathy.
How is this NGS genetic test performed?
The test is performed by extracting DNA from a blood sample (or FTA card spot). Next-generation sequencing is used to read the entire protein-coding region of the ATPAF2 gene. The data is analyzed for small mutations and selected copy number changes.
What is the cost of the ATPAF2 gene NGS test at DNA Labs India?
The special discounted price for the ATPAF2 gene mitochondrial complex V deficiency nuclear type 1 NGS genetic test is INR 20,000. DNA Labs India also offers free home sample collection across major cities in India.
How long will it take to get the results?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory. This includes sequencing, data analysis, and clinical interpretation.
Is fasting required before the sample collection?
No, fasting is not required for this genetic test. You can give a blood sample at any time of the day after eating normally.
Can home sample collection be arranged?
Yes, DNA Labs India provides free home sample collection for this test for online bookings in Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, and many other cities across India.
Why is genetic counseling recommended before the test?
Genetic counseling helps you understand the purpose of the test, its limitations, possible outcomes, and the implications for you and your family. A pedigree chart is drawn to identify at-risk relatives and support informed decision-making.
What does a positive test result mean?
A positive result indicates that a pathogenic mutation was found in the ATPAF2 gene, confirming the diagnosis of mitochondrial complex V deficiency, nuclear type 1. This information helps your doctor plan appropriate management and allows family members to assess their own risk.
Can this genetic test be used for prenatal diagnosis?
Prenatal testing for ATPAF2-related disease is possible if the disease-causing variant has been previously identified in the family. This test can be performed on fetal DNA from amniocentesis or chorionic villus sampling, and must be offered with pre- and post-test genetic counseling.
Is the test NABL accredited?
DNA Labs India follows rigorous quality standards and is NABL accredited. The laboratory uses validated NGS platforms and all results are reviewed by certified clinical geneticists before release.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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