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ATM Gene Ataxia-Telangiectasia NGS Genetic Test

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ATM Gene Ataxia-Telangiectasia NGS Genetic Test

Short Name: ATM Gene A-T NGS Test

Also known as: A-T, Ataxia-Telangiectasia, Louis-Bar Syndrome

ATM Gene Ataxia-Telangiectasia 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 TestPediatric and Adult🏠 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 detect mutations in the ATM gene for diagnosis of Ataxia-Telangiectasia, aiding in early management, genetic counseling, and family planning.

Test Code
1513
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

No special preparation required. Provide detailed clinical history and undergo genetic counseling to understand the test implications.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture from the arm. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

The sample is labeled and sent to the laboratory for analysis. Results are typically available in 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss test implications, benefits, and limitations.
2
During the Test:Blood draw procedure is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Report analysis and post-test counseling to interpret results and plan next steps.

About This Test

Who Should Get This Test

To detect mutations in the ATM gene for diagnosis of Ataxia-Telangiectasia, aiding in early management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Follow aseptic techniques
  • Store samples at appropriate temperature

Doctor's Notes

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

"Genetic testing for A-T is vital for early diagnosis, family planning, and personalized management. Consult a healthcare provider if symptoms or family history are present."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Room Temperature24 hours for blood; varies for DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Improperly labeled or unlabeled sample
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ATM gene, which are associated with Ataxia-Telangiectasia.
📊

Confirms diagnosis of A-T; recommend clinical management and genetic counseling.

📊

A-T is unlikely based on genetic analysis; consider other diagnoses if symptoms persist.

📊

Further testing or family studies may be required for clarification.

⚠️ When to Consult a Doctor:

If symptoms of A-T are present, such as progressive ataxia, telangiectasias, or recurrent infections, or if there is a known family history, consult a geneticist or neurologist promptly.

Limitations

  • ⚠Cannot detect all types of mutations (e.g., large deletions)
  • ⚠Results may require confirmatory testing
  • ⚠Does not assess other genetic conditions

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, soreness)
  • ●Potential psychological impact of genetic results
  • ●No significant health risks from the test itself

Interfering Factors

  • ●Contaminated DNA sample
  • ●Insufficient sample volume
  • ●Improper sample storage

Compare With Similar Tests

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ComparisonATM Gene Ataxia-Telangiectasia NGS Genetic Test

Frequently Asked Questions

What is Ataxia-Telangiectasia (A-T)?
A-T is a rare genetic disorder affecting the nervous and immune systems, caused by mutations in the ATM gene, leading to progressive ataxia, telangiectasias, and immunodeficiency.
What is the ATM gene?
The ATM gene encodes a protein crucial for DNA repair; mutations in this gene are responsible for Ataxia-Telangiectasia.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze the entire ATM gene from a blood or saliva sample to detect mutations.
What is the cost of the ATM Gene A-T NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of A-T?
Symptoms include progressive coordination loss, slurred speech, telangiectasias, recurrent infections, and abnormal eye movements.
Can Ataxia-Telangiectasia be cured?
There is no cure for A-T, but early diagnosis and management can help alleviate symptoms and improve quality of life.
Is the genetic test painful?
The test involves a blood draw, which may cause minor discomfort but is generally not painful.
Who should consider getting this test?
Individuals showing symptoms of A-T, those with a family history of the disorder, or for carrier testing in families.
What does a positive test result mean?
A positive result confirms mutations in the ATM gene, indicating A-T or carrier status; genetic counseling is recommended.
How accurate is the NGS genetic test for A-T?
NGS is highly accurate for detecting mutations in the ATM gene, though confirmatory testing may be needed in some cases.
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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