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ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic Test

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ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic Test

Short Name: ATP5F1A Gene Test

ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 diagnose Combined Oxidative Phosphorylation Deficiency Type 22 by detecting mutations in the ATP5F1A gene using next-generation sequencing, aiding in clinical management and genetic counseling.

Test Code
1938
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling is recommended prior to testing to discuss implications and family history.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample is drawn by a trained healthcare professional; alternative samples like extracted DNA or FTA card are accepted.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test purpose, implications, and potential outcomes.
2
During the Test:Sample collection via blood draw or alternative methods; minimal discomfort.
3
After the Test:Wait for results in 3-4 weeks; discuss findings with a healthcare provider.

About This Test

Who Should Get This Test

To diagnose Combined Oxidative Phosphorylation Deficiency Type 22 by detecting mutations in the ATP5F1A gene using next-generation sequencing, aiding in clinical management and genetic counseling.

How to Prepare

  • No fasting required unless specified by the physician
  • Bring identification documents and any relevant medical records
  • Ensure the sample is labeled correctly with patient details

Doctor's Notes

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

"Early genetic testing for COXPD22 can guide management decisions and family planning, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples: stable at room temperature for up to 24 hours
Extracted DNA: stable at 4°C for several days or frozen for long-term storage
FTA card samples: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from this genetic test indicate the presence or absence of pathogenic mutations in the ATP5F1A gene, guiding diagnosis and management.
Positive: Pathogenic variant detected, confirming diagnosis of COXPD22
Negative: No pathogenic variants found, but does not completely rule out the disorder if symptoms persist
Variant of Uncertain Significance (VUS): Further testing or clinical correlation is recommended
⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if symptoms persist, worsen, or if the test result is positive for genetic counseling and management planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Variants of uncertain significance (VUS) may require further evaluation
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Emotional distress from potential genetic diagnosis
  • ●Risk of misinterpretation without professional guidance

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Improper sample storage

Compare With Similar Tests

TestATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic TestMitochondrial DNA SequencingWhole Exome Sequencing
ComparisonATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic Test

Frequently Asked Questions

What is ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22?
It is a rare genetic disorder caused by mutations in the ATP5F1A gene, leading to impaired mitochondrial energy production and various symptoms like developmental delays and seizures.
What are the common symptoms of this disorder?
Symptoms include developmental delays, intellectual disability, seizures, weakness, fatigue, respiratory problems, muscle pain, and speech difficulties.
How is this disorder diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS (next-generation sequencing) to detect mutations in the ATP5F1A gene.
What is NGS genetic testing?
NGS (next-generation sequencing) is an advanced method that analyzes DNA sequences to identify genetic mutations with high accuracy and sensitivity.
What is the cost of the ATP5F1A gene test?
The test costs INR 20000 in India, which may vary by location, but DNA Labs India offers this price with home collection services.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection across many cities in India for online bookings.
What sample types are accepted for this test?
Samples can be blood, extracted DNA, or one drop of blood on an FTA card.
Are there any risks associated with the genetic test?
Risks are minimal and may include minor bruising from blood draw or emotional impact from results; genetic counseling is recommended.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the ATP5F1A gene, confirming the diagnosis and guiding further management.
Can this test be used for family planning purposes?
Yes, genetic testing can help identify carrier status and inform family planning decisions, especially with genetic counseling.
Where can I get this test done?
DNA Labs India offers this test nationwide with home collection; you can book online through their website or contact them for assistance.
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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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.

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