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ATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test

Short Name: ATR Gene CTCS NGS Genetic Test

Also known as: ATR Syndrome, Familial Cutaneous Telangiectasia and Cancer Syndrome, ATR Gene Disorder

ATR Gene Cutaneous telangiectasia and cancer syndrome, familial 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 TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose mutations in the ATR gene for Cutaneous Telangiectasia and Cancer Syndrome, Familial, aiding in risk assessment, genetic counseling, and management of associated cancer risks.

Test Code
4876
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

No special preparation required. Genetic counseling is recommended prior to testing.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using standard venipuncture or a finger-prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing and to obtain informed consent.
2
During the Test:The test involves sample collection (blood or DNA), followed by NGS analysis in a certified laboratory.
3
After the Test:Results are reviewed by a geneticist, and a report is generated with recommendations for follow-up care.

About This Test

Who Should Get This Test

To diagnose mutations in the ATR gene for Cutaneous Telangiectasia and Cancer Syndrome, Familial, aiding in risk assessment, genetic counseling, and management of associated cancer risks.

How to Prepare

  • Bring a valid ID and doctor's prescription if available
  • Ensure proper labeling of the sample
  • For home collection, ensure a clean and accessible environment

Doctor's Notes

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

"Early genetic testing for ATR gene mutations can facilitate proactive cancer screening and personalized management, especially for individuals with a family history of skin abnormalities or cancer."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable for 24 hours at room temperature
Extracted DNA stable for up to 7 days at 2-8°C
FTA card samples stable for long-term storage at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ATR gene, which is crucial for diagnosing Cutaneous Telangiectasia and Cancer Syndrome, Familial.
Positive Result: Pathogenic variant detected, indicating increased risk for skin abnormalities and cancer. Recommend genetic counseling and regular cancer screenings.
Negative Result: No pathogenic variants detected. However, clinical symptoms may still require monitoring, and other genetic factors could be involved.
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed for clarification. Consult a geneticist for guidance.
⚠️ When to Consult a Doctor:

If you experience symptoms such as persistent telangiectasias, skin fragility, or have a family history of related cancers, consult a geneticist, dermatologist, or oncologist for evaluation and management.

Limitations

  • May not detect all possible mutations in the ATR gene
  • Requires genetic counseling for interpretation
  • Not a standalone diagnostic tool; clinical correlation is essential
  • Results may have variants of uncertain significance (VUS)

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of test results, including anxiety or stress
  • Potential for incidental findings unrelated to the primary condition

Interfering Factors

  • Sample degradation or contamination
  • Technical errors during sequencing
  • Insufficient DNA quality or quantity

Compare With Similar Tests

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ComparisonATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test

Frequently Asked Questions

What is ATR Gene Cutaneous Telangiectasia and Cancer Syndrome?
It is a rare genetic disorder caused by mutations in the ATR gene, leading to skin telangiectasias and an increased risk of various cancers.
What are the common symptoms of this syndrome?
Symptoms include multiple small red or purple blood vessels on the skin, skin that is easily damaged and slow to heal, and a higher risk of skin and other cancers.
How is the syndrome diagnosed?
Diagnosis is confirmed through genetic testing, specifically the NGS Genetic Test that detects mutations in the ATR gene.
What is the cost of the ATR Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the ATR gene, increasing the risk for skin abnormalities and cancer. Genetic counseling and regular screenings are recommended.
Can this test be performed on children?
Yes, the test can be performed on individuals of all ages, but genetic counseling is advised for minors and their families.
Is the test covered by insurance?
Coverage varies by insurance provider. It is advisable to check with your insurer or contact DNA Labs India for assistance.
What are the risks associated with genetic testing?
Risks include minimal physical discomfort from blood draw and potential psychological impact from results. Genetic counseling helps mitigate these risks.
How should I prepare for the test?
No special preparation is required. However, genetic counseling is recommended before testing to understand the process and implications.
What should I do after receiving the test results?
Consult a healthcare professional, such as a geneticist or oncologist, to discuss results, management options, and follow-up care.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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