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ATP6AP2 Gene Mental retardation, X-linked with epilepsy NGS Genetic Test

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ATP6AP2 Gene Mental retardation, X-linked with epilepsy NGS Genetic Test

Short Name: ATP6AP2 Gene NGS Test

Also known as: ATP6AP2 Gene Sequencing Test, ATP6AP2 Gene Mutation Analysis

ATP6AP2 Gene Mental retardation, X-linked with epilepsy 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestBoth (primarily affects males)🏠 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 this test is to diagnose ATP6AP2 gene mutations in individuals presenting with symptoms of mental retardation and epilepsy, enabling early intervention, genetic counseling, and family planning.

Test Code
1708
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling as per pre-test requirements.

Method: Blood draw or cheek swab

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or a cheek swab may be used.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample will be processed for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or cheek swab; analysis using NGS technology.
3
After the Test:Results delivered in 3-4 weeks; follow-up counseling advised.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose ATP6AP2 gene mutations in individuals presenting with symptoms of mental retardation and epilepsy, enabling early intervention, genetic counseling, and family planning.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Follow standard blood collection procedures

Doctor's Notes

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

"Early detection of ATP6AP2 gene mutations through this test can facilitate timely management, genetic counseling, and family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or cheek swab

Sample Stability

Blood sample: stable for 48 hours at room temperature
DNA extract: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ATP6AP2 gene. Consult a geneticist for detailed interpretation.
📊

Negative

No pathogenic variant detected. Symptoms may be due to other causes.

📊

Positive

Pathogenic variant identified. Confirm diagnosis and consider genetic counseling.

📊

Variant of Unknown Significance

Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

If the test is positive or if symptoms persist despite negative results, consult a neurologist or geneticist.

Limitations

  • ⚠Only detects mutations in the ATP6AP2 gene
  • ⚠May not identify all types of variants
  • ⚠Results require interpretation by a geneticist

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Genetic testing may have psychological implications

Interfering Factors

  • ●Poor sample quality
  • ●Contaminated sample
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is ATP6AP2 Gene Mental Retardation and Epilepsy NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the ATP6AP2 gene, associated with X-linked mental retardation and epilepsy.
How is the test performed?
The test is performed using a blood sample or cheek swab, and DNA is analyzed using NGS technology to identify mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How accurate is the test?
The test is highly accurate due to NGS technology, capable of detecting even small mutations in the ATP6AP2 gene.
What are the symptoms of ATP6AP2 gene mutation?
Symptoms include intellectual disability, delayed speech development, seizures, muscle weakness, and vision problems, with variability in severity.
How is the disorder inherited?
The disorder is inherited in an X-linked pattern, meaning it primarily affects males, while females may be carriers with milder symptoms.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample collection.
Do I need genetic counseling before the test?
Yes, a genetic counseling session is recommended to discuss the test implications, draw a pedigree chart, and understand family history.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the ATP6AP2 gene, confirming the diagnosis and guiding management and genetic counseling.
Can the test be done for females?
Yes, the test can be performed for females, who may be carriers or have milder symptoms due to X-linked inheritance.
Is the test covered by insurance?
Coverage depends on your insurance provider; check with them. DNA Labs India does not guarantee insurance coverage for this test.
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

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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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