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ATP1B4 Gene Autism, ATP1B4 Related NGS Genetic Test

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ATP1B4 Gene Autism, ATP1B4 Related NGS Genetic Test

Short Name: ATP1B4 NGS Test

Also known as: ATP1B4 Gene Autism Test, ATP1B4 Related NGS Genetic Test, Autism Genetic Test ATP1B4

ATP1B4 Gene Autism, ATP1B4 Related 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 Results of the ATP1B4 NGS genetic test are typically available in 3 to 4 weeks from the date of sample receipt at the laboratory. The turnaround time may vary depending on the complexity of the test and the need for confirmatory studies.. Free home collection in 300+ cities across India.

Next Generation Sequencing🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the ATP1B4 gene that may be associated with an increased risk of autism spectrum disorder. This test may assist in establishing a molecular diagnosis, providing risk information for family planning, and enabling personalized treatment and supportive care strategies under the guidance of a clinical geneticist and neurologist.

Test Code
3909
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results of the ATP1B4 NGS genetic test are typically available in 3 to 4 weeks from the date of sample receipt at the laboratory. The turnaround time may vary depending on the complexity of the test and the need for confirmatory studies.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required for this test. However, it is essential to provide complete clinical history and a pedigree chart of the family affected with ATP1B4-related conditions. A genetic counseling session is recommended before the test.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

During venipuncture, a qualified phlebotomist will collect a blood sample from the vein in your arm. For FTA card collection, a small drop of blood from a finger prick is spotted onto the card. The procedure is quick and involves minimal discomfort.

Step 3

Report Delivery

You may resume your normal activities immediately after sample collection. The sample will be shipped to the laboratory for analysis. Results will be available in 3 to 4 weeks. Genetic counseling to discuss the results is strongly advised.

Timeline: Results of the ATP1B4 NGS genetic test are typically available in 3 to 4 weeks from the date of sample receipt at the laboratory. The turnaround time may vary depending on the complexity of the test and the need for confirmatory studies.

Patient Instructions

1
Before the Test:Before undergoing the ATP1B4 NGS genetic test, a genetic counseling session is recommended to discuss the purpose, benefits, limitations, and potential results. You should bring all relevant medical records and a family pedigree chart to the appointment.
2
During the Test:During the sample collection, either a blood sample or a FTA card blood spot is taken. The procedure is simple and does not require fasting. If using FTA card, ensure the spot is completely saturated and dried as per instructions.
3
After the Test:After the test, you will be informed when the report is ready. Contact your healthcare provider to schedule a post-test genetic counseling session to discuss the results and next steps.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the ATP1B4 gene that may be associated with an increased risk of autism spectrum disorder. This test may assist in establishing a molecular diagnosis, providing risk information for family planning, and enabling personalized treatment and supportive care strategies under the guidance of a clinical geneticist and neurologist.

How to Prepare

  • Please carry the test requisition form and any prior diagnostic reports.
  • Inform the lab if you are on any medications or have had a blood transfusion recently.
  • For FTA card, follow the instructions provided by the lab for proper drying and storage.
  • Ensure the sample is labeled correctly with your patient ID and date of collection.

Doctor's Notes

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

"Genetic testing for ATP1B4 should always be accompanied by pre- and post-test genetic counseling to help families understand the implications of results and guide management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml Blood or as per laboratory requirement
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood (EDTA) at room temperature
Blood (EDTA) at 2-8°C
Extracted DNA at -20°C
FTA card at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Improperly labeled sample
  • Sample received without proper clinical history
  • FTA card not dried properly
  • Frozen whole blood (avoids lysis)

Understanding Your Results

The result of the ATP1B4 NGS test should be interpreted in the context of the patient's clinical features, family history, and other diagnostic evaluations. A molecular finding of a pathogenic variant in ATP1B4 is not by itself diagnostic of autism; it indicates a genetic susceptibility or possible contribution to the neurodevelopmental phenotype.
📊

Pathogenic or likely pathogenic variant detected

Indicates a genetic alteration associated with increased risk of ATP1B4-related autism. The result confirms a genetic predisposition, and clinical correlation is required. Family counseling is recommended.

📊

Variant of uncertain significance (VUS) detected

A genetic change whose clinical significance is not yet clearly known. Additional testing of family members may help determine its relevance. The result should be discussed with a genetics expert.

📊

No pathogenic variant detected

No identifiable pathogenic mutation in the ATP1B4 gene. This does not rule out other genetic or non-genetic causes of autism. Further genetic testing may be considered.

⚠️ When to Consult a Doctor:

It is recommended to consult a neurologist or clinical geneticist before undergoing this test to determine if genetic testing is appropriate. After receiving results, a follow-up consultation is essential to understand the implications for diagnosis, management, and family planning.

Limitations

  • NGS may not detect large deletions/duplications, deep intronic variants, or repeat expansions
  • Variants of uncertain significance may be reported; family studies may be needed
  • Negative results do not exclude a genetic cause of autism
  • Result should be interpreted by a qualified clinical geneticist

Risks & Considerations

  • Bruising or minimal bleeding at the venipuncture site
  • Dizziness or lightheadedness during blood draw
  • No significant clinical risks associated with this test

Interfering Factors

  • Maternal cell contamination of fetal/neonatal samples
  • Poor DNA quality due to sample degradation
  • Presence of highly homologous pseudogenes
  • Incomplete clinical history may impact interpretation

Frequently Asked Questions

What is the ATP1B4 gene and how is it related to autism?
The ATP1B4 gene provides instructions for making a protein that is important for the normal functioning of brain cells. Mutations in this gene have been linked to an increased risk of autism spectrum disorder. This NGS test checks for these mutations.
Who should take this ATP1B4 genetic test?
This test may be recommended for individuals with symptoms of autism, those with a family history of ATP1B4-related disorders, or patients referred by a neurologist or clinical geneticist to investigate the genetic basis of neurodevelopmental symptoms.
What is the cost of the ATP1B4 Related NGS Genetic Test in India?
The test is priced at INR 20,000 at DNA Labs India. This is a special discounted price that includes free home sample collection across many cities in India.
What kind of sample is required for the ATP1B4 NGS test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card. Blood samples are typically collected in an EDTA tube.
Do I need to fast before taking this test?
No fasting is required for ATP1B4 gene testing. You can eat and drink normally before the sample collection.
How long will it take to get the test report?
The report is usually available within 3 to 4 weeks after the sample reaches the laboratory.
Will this test diagnose autism?
This test only detects changes in the ATP1B4 gene. It does not diagnose autism itself. A positive result indicates a genetic factor that may contribute to autism risk; the final diagnosis is clinical based on behavioral and developmental assessments.
What does a negative result mean?
A negative result means no pathogenic mutation was found in the ATP1B4 gene. It does not exclude other genetic or non-genetic causes of autism. Your doctor may recommend additional testing if needed.
What is the role of genetic counseling before the test?
Genetic counseling helps patients and families understand the purpose, limitations, and possible outcomes of the genetic test. It is important to make an informed decision before undergoing the NGS test.
Can this test be done on a child?
Yes, this test can be performed on individuals of any age, including children. For minors, a parent or guardian provides consent. A pediatric neurologist or geneticist should interpret the result.
Is the ATP1B4 NGS test covered by insurance?
Most insurance schemes do not cover this test. However, you may check with your insurance provider to see if genetic testing is included under your policy. DNA Labs India offers affordable self-pay pricing.
How will I receive the test report?
The report is delivered through your secure online portal, email, or WhatsApp as per your preference. A printed copy can also be collected from the lab if required.
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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