Skip to main content
DNA Labs India

ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test

Short Name: ATP5F1E Gene NGS Test

Also known as: ATP5F1E gene sequencing, Mitochondrial complex V deficiency nuclear type 3 genetic test, ATP synthase deficiency gene test

ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation for specific variants when required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally delivered 3 to 4 weeks after the sample reaches the laboratory.. 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

To identify clinically significant sequence variants in the ATP5F1E gene using NGS technology in order to support or confirm a diagnosis of mitochondrial complex V deficiency, nuclear type 3, and to provide information for inheritance and recurrence risk counselling.

Test Code
4328
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally delivered 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger confirmation for specific variants when required
Step 1

Sample Collection

No special preparation, fasting, or dietary restriction is required. A genetic counselling session is recommended before testing to review family history, draw a pedigree chart, explain the test benefits and limitations, and obtain informed consent. Please carry previous clinical records, imaging reports, and doctor referral if available.

Method: Peripheral blood draw / finger-prick blood spot / patient-provided DNA

Step 2

Laboratory Analysis

A trained phlebotomist will collect venous blood in an EDTA tube. If the FTA card method is used, a single drop of blood is obtained by finger-prick and applied to the marked circles on the card. The sample is labelled and transported to the genetics laboratory for DNA extraction and NGS analysis.

Step 3

Report Delivery

You can resume routine activities immediately after sample collection. A small bruise at the venepuncture site may appear but usually resolves quickly. The report is generally ready in 3 to 4 weeks and will be shared through the selected delivery mode.

Timeline: Reports are generally delivered 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:An initial appointment with a genetic counsellor or clinical geneticist is advised. The counsellor will review personal and family medical history, draw a three-generation pedigree, explain the test limitations and possible consequences, and take informed consent. A doctor's referral or prescription may be needed. No fasting is required.
2
During the Test:A blood sample is collected from a vein into an EDTA tube, or one drop of blood is spotted on an FTA card. The sample is labelled, securely packed, and sent to the DNA Labs India genetics laboratory for DNA extraction and next-generation sequencing.
3
After the Test:No recovery time is needed. The laboratory processes the DNA sample, performs NGS analysis, and prepares a clinical interpretation report. The referring clinician or genetic counsellor will discuss the result with you.

About This Test

Who Should Get This Test

To identify clinically significant sequence variants in the ATP5F1E gene using NGS technology in order to support or confirm a diagnosis of mitochondrial complex V deficiency, nuclear type 3, and to provide information for inheritance and recurrence risk counselling.

How to Prepare

  • Use an EDTA vacutainer and do not allow the blood to clot
  • Label the sample with patient name, date of birth, booking ID, and collection date
  • If FTA card is used, fill all marked circles with one drop of blood each
  • Keep the FTA card dry and avoid touching the filter paper surface
  • Ship the sample according to the laboratory transport kit instructions

Doctor's Notes

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

"In a patient with suspected mitochondrial energy generation defect, this test helps clarify the molecular basis. However, a positive result must be correlated clinically, and a negative result does not completely exclude a mitochondrial disorder because other nuclear or mitochondrial genes may also be involved."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required by laboratory protocol
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral blood draw / finger-prick blood spot / patient-provided DNA

Sample Stability

Whole blood in EDTA: 7 days at 2-8°C
Extracted DNA: 12 months at -20°C or below
FTA card blood spot: 3 months at room temperature away from humidity and direct sunlight
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • FTA card with insufficient blood spots or without proper patient identification
  • Wrong anticoagulant tube used
  • Label mismatch between the sample and the requisition form
  • Sample stored beyond the acceptable duration or transported under improper conditions

Understanding Your Results

The result must be interpreted in the context of clinical features, family history, biochemical markers, and when indicated, enzyme studies or neuroimaging. This report should be discussed with a clinical geneticist, neurologist, or physician experienced in mitochondrial disorders.
Positive: Pathogenic or likely pathogenic variant detected in ATP5F1E confirms the molecular diagnosis in an appropriate clinical context
Negative: No pathogenic or likely pathogenic variant detected; this does not exclude mitochondrial disease due to other genes or acquired causes
Variant of uncertain significance: The variant is not yet clearly disease-causing; additional family testing, segregation studies, and expert review may be needed
Variant reclassification: Pathogenicity classification may change over time as new evidence becomes available
⚠️ When to Consult a Doctor:

If you or a family member have unexplained muscle weakness, developmental delay, seizures, sensory impairment, or biochemical evidence of mitochondrial dysfunction, consult a neurologist, clinical geneticist, or metabolic specialist before and after genetic testing.

Limitations

  • ⚠Targeted NGS cannot reliably detect all deep intronic, regulatory, large deletion, duplication, or complex structural variants
  • ⚠A negative result does not exclude mitochondrial complex V deficiency due to variants in other mitochondrial or nuclear genes
  • ⚠Non-genetic or acquired causes of mitochondrial dysfunction cannot be excluded
  • ⚠Variant of uncertain significance may require family segregation studies and further functional analysis
  • ⚠Mitochondrial heteroplasmy cannot be assessed with this nuclear gene test

Risks & Considerations

  • ●Mild pain or discomfort at the blood collection site
  • ●Small bruising at the venepuncture site
  • ●Dizziness or light-headedness during collection
  • ●Very low risk of local infection

Interfering Factors

  • ●Recent allogeneic blood transfusion or stem cell transplant can introduce donor DNA and affect blood-derived DNA results
  • ●Sample contamination or sample mix-up during collection
  • ●Poor DNA quality or insufficient DNA from FTA card
  • ●Very high GC-rich regions or complex repeats may not be fully covered by standard NGS
  • ●Large structural variants or copy-number changes are not detected by this targeted NGS test

Compare With Similar Tests

TestATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test
ComparisonATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test

Frequently Asked Questions

What is the price of the ATP5F1E gene mitochondrial complex V deficiency NGS genetic test in India?
The test costs INR 20000, shown as Rs 20000.0, at DNA Labs India. This includes free home sample collection for online bookings in several cities. Additional pre-test genetic counselling is recommended before the test.
What is mitochondrial complex V deficiency, nuclear type 3?
It is a rare genetic mitochondrial disorder caused by pathogenic variants in the ATP5F1E gene. The gene encodes a subunit of ATP synthase, and when it is altered, mitochondrial ATP production is impaired, causing symptoms such as muscle weakness, developmental delay, seizures, and sensory impairment.
What sample is needed for this ATP5F1E genetic test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The exact accepted sample should be confirmed with the laboratory at the time of booking.
Is fasting required before the ATP5F1E NGS genetic test?
No, fasting is not required for this genetic test. The patient can eat and drink normally before sample collection.
How long will the ATP5F1E gene NGS test report take?
The report is generally available within 3 to 4 weeks after the sample reaches the genetic laboratory.
Who should take this ATP5F1E gene test?
This test may be considered for people with clinical features suggestive of mitochondrial complex V deficiency, those with a family history of a known ATP5F1E variant, and patients with biochemical evidence of reduced Complex V activity.
What does a positive ATP5F1E test result mean?
A positive result means a pathogenic or likely pathogenic variant was detected in ATP5F1E. In the correct clinical context, this confirms the genetic diagnosis and allows family testing, carrier testing, and recurrence risk counselling.
What does a negative ATP5F1E test result mean?
A negative result means no pathogenic or likely pathogenic ATP5F1E variant was found. It reduces the probability of ATP5F1E-related disease but does not exclude other nuclear or mitochondrial gene disorders that can cause a similar clinical picture.
Can this test detect all types of mitochondrial complex V deficiency?
No. This targeted NGS test analyses only the ATP5F1E gene. Other nuclear genes such as ATP5F1A and mitochondrial genes such as MT-ATP6 can also cause Complex V deficiency. A broader gene panel or whole exome sequencing may be needed in selected cases.
Why is genetic counselling important before and after this test?
Pre-test counselling helps document family history, draw a pedigree chart, explain the inheritance pattern, and obtain informed consent. Post-test counselling helps interpret the result, explain implications for relatives, and guide medical surveillance and follow-up.
Is home sample collection available for this ATP5F1E genetic test?
Yes, DNA Labs India offers free home sample collection for online bookings across multiple cities in India. A trained phlebotomist will visit the address to collect the sample.
Is the ATP5F1E gene NGS test covered by health insurance?
Genetic tests for rare inherited conditions are often not automatically covered by insurance. Coverage depends on the specific policy, clinical indication, doctor referral, and pre-authorisation from the insurance provider.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.