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Nx Gen Sequencing: Ataxia-Telangiectasia Test

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Nx Gen Sequencing: Ataxia-Telangiectasia Test

Also known as: Ataxia-Telangiectasia, A-T

Nx Gen Sequencing: Ataxia-Telangiectasia Test test available at DNA Labs India for ₹23,400. Uses NGS, Sanger Sequencing on Whole Blood samples. Results in Reports available in 40 working days after sample receipt.. Free home collection in 300+ cities across India.

Genetic TestingChildren🏠 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 the Nx Gen Sequencing: Ataxia-Telangiectasia Test is to accurately diagnose Ataxia-Telangiectasia by identifying mutations in the ATM gene. This helps in confirming the condition, understanding the specific genetic variants, guiding clinical management, informing family planning decisions, and enabling early intervention for associated complications like cancer risk.

Test Code
1329
Price
₹23,400
Sample Type
Whole Blood
Result Time
Reports available in 40 working days after sample receipt.
Fasting Required
No
Method
NGS, Sanger Sequencing
Step 1

Sample Collection

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. Ensure no recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

Collect 10 mL whole blood in 2 Lavender Top (EDTA) tubes using standard venipuncture technique.

Step 3

Report Delivery

Label tubes properly and ship refrigerated. Do not freeze.

Timeline: Reports available in 40 working days after sample receipt.

Patient Instructions

1
Before the Test:Ensure consent form is filled and sample collection instructions are followed.
2
During the Test:Blood sample is processed in the lab using NGS and Sanger sequencing methods.
3
After the Test:Monitor for any post-collection discomfort. Results are delivered online within the turnaround time.

About This Test

Who Should Get This Test

The purpose of the Nx Gen Sequencing: Ataxia-Telangiectasia Test is to accurately diagnose Ataxia-Telangiectasia by identifying mutations in the ATM gene. This helps in confirming the condition, understanding the specific genetic variants, guiding clinical management, informing family planning decisions, and enabling early intervention for associated complications like cancer risk.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood
  • Use Lavender Top (EDTA) tubes
  • Ship refrigerated, do not freeze
  • Include completed consent form

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of inherited disorders like Ataxia-Telangiectasia, especially in families with a history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume10 mL (5 mL min.)
ContainerLavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator: 72 hours
Frozen: Not applicable
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed sample
  • Missing consent form

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ATM gene associated with Ataxia-Telangiectasia.
Positive: Pathogenic variants detected, confirming diagnosis
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms suggest Ataxia-Telangiectasia, for genetic counseling after positive results, or for family planning advice.

Limitations

  • ⚠May not detect all mutation types
  • ⚠Results require clinical correlation
  • ⚠Not for prenatal diagnosis

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Contaminated sample
  • ●Improper sample storage
  • ●Incomplete consent form

Compare With Similar Tests

TestNx Gen Sequencing: Ataxia-Telangiectasia TestTraditional Sanger SequencingWhole Exome Sequencing
ComparisonNx Gen Sequencing: Ataxia-Telangiectasia Test

Frequently Asked Questions

What is Ataxia-Telangiectasia?
Ataxia-Telangiectasia (A-T) is a rare, inherited neurodegenerative disorder characterized by progressive ataxia, telangiectasia, immune dysfunction, and increased cancer risk, caused by mutations in the ATM gene.
What causes Ataxia-Telangiectasia?
A-T is caused by mutations in the ATM gene, which is responsible for repairing damaged DNA. It is inherited in an autosomal recessive pattern.
What are the symptoms of Ataxia-Telangiectasia?
Common symptoms include difficulty with coordination and balance (ataxia), enlarged blood vessels on the skin (telangiectasia), recurrent respiratory infections, delayed growth, immune dysfunction, and increased risk of lymphoma and leukemia.
How is Ataxia-Telangiectasia diagnosed?
Diagnosis is based on clinical symptoms, family history, and genetic testing. DNA sequencing of the ATM gene, such as with Nx Gen Sequencing, confirms the diagnosis.
What is Nx Gen Sequencing?
Nx Gen Sequencing is an advanced genetic testing technology that provides comprehensive and accurate analysis of genes, including the ATM gene for Ataxia-Telangiectasia.
Why choose Nx Gen Sequencing for A-T testing?
It offers higher accuracy and detail than traditional methods, enabling precise identification of mutations and better clinical management.
How is the test performed?
A blood or saliva sample is collected, and DNA is extracted and analyzed using next-generation sequencing (NGS) and Sanger sequencing to detect ATM gene mutations.
What sample is required for the test?
The test requires a 10 mL whole blood sample in Lavender Top (EDTA) tubes, with a minimum of 5 mL.
How long does it take to get results?
Results are typically available within 40 working days after sample collection.
What does a positive test result mean?
A positive result indicates pathogenic mutations in the ATM gene, confirming a diagnosis of Ataxia-Telangiectasia. Consult a healthcare provider for further management.
What should I do if the test is positive?
Seek genetic counseling, discuss treatment options with a specialist, and consider family testing for early detection.
Is genetic testing covered by insurance?
Coverage varies by insurance plan. Check with your provider; schemes like PMJAY or CGHS may not cover this test directly.
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.

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