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MRE11 Gene Ataxia Telangiectasia Like Disorder NGS Genetic Test

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MRE11 Gene Ataxia Telangiectasia Like Disorder NGS Genetic Test

Short Name: MRE11 Gene ATLD NGS Test

Also known as: Ataxia Telangiectasia-like disorder, MRE11-related ataxia, ATLD

MRE11 Gene Ataxia Telangiectasia Like Disorder 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 Test🏠 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

Diagnosis of Ataxia Telangiectasia Like Disorder through genetic analysis of the MRE11 gene to confirm the condition and guide clinical management.

Test Code
1512
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

Complete a genetic counseling session to draw a pedigree chart of family members and provide detailed clinical history of the patient.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture under sterile conditions, or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed, DNA extracted if needed, and sent for NGS analysis. Follow up for report delivery.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and informed consent are required prior to testing.
2
During the Test:Sample collection (blood or DNA) and submission to the laboratory for analysis.
3
After the Test:Wait for report within 3-4 weeks; discuss results with a healthcare provider.

About This Test

Who Should Get This Test

Diagnosis of Ataxia Telangiectasia Like Disorder through genetic analysis of the MRE11 gene to confirm the condition and guide clinical management.

How to Prepare

  • No fasting required
  • Bring referral letter and clinical history documents
  • Ensure sample is labeled correctly with patient details
  • Sample stability: ambient room temperature for blood

Doctor's Notes

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

"Early diagnosis with MRE11 gene testing is essential for managing ataxia-telangiectasia like disorder and guiding therapeutic interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples: stable at room temperature for up to 24 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • FTA card with inadequate blood spot

Understanding Your Results

The test results indicate the presence or absence of mutations in the MRE11 gene. A positive result confirms diagnosis of Ataxia Telangiectasia Like Disorder, while a negative result suggests no pathogenic variants were detected, though clinical correlation is advised.
📊

Positive

Pathogenic mutation(s) detected in the MRE11 gene, confirming diagnosis of ATLD. Genetic counseling and management planning recommended.

📊

Negative

No pathogenic variants found in the MRE11 gene. Consider other genetic or clinical causes; further testing may be needed.

📊

Variant of Uncertain Significance (VUS)

Genetic variant identified but clinical significance is unknown. Correlation with family studies and clinical follow-up is essential.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist immediately upon receiving a positive result, or if symptoms persist or worsen despite a negative result, for further evaluation and management.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions/duplications without additional testing)
  • ⚠Results require correlation with clinical findings and family history
  • ⚠Cannot rule out other genetic or non-genetic causes of similar symptoms

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, slight pain, or infection at puncture site
  • ●Potential emotional impact of genetic results, requiring counseling support

Interfering Factors

  • ●Poor sample quality or hemolysis
  • ●Contamination during collection or transport
  • ●Degraded DNA from improper storage

Compare With Similar Tests

TestMRE11 Gene Ataxia Telangiectasia Like Disorder NGS Genetic TestATM Gene Mutation TestComprehensive Ataxia Panel
ComparisonMRE11 Gene Ataxia Telangiectasia Like Disorder NGS Genetic Test

Frequently Asked Questions

What is the MRE11 Gene ATLD NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the MRE11 gene, which causes Ataxia Telangiectasia Like Disorder, a rare neurological condition.
What are the common symptoms of Ataxia Telangiectasia Like Disorder?
Symptoms include difficulty walking and balancing, tremors, slurred speech, limb weakness, delayed motor development, and progressive loss of motor function.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is then analyzed using NGS technology to sequence the MRE11 gene for mutations.
What is the cost of the MRE11 Gene ATLD NGS Genetic Test?
The test costs INR 20,000, which includes testing, interpretation, and genetic counseling.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across numerous cities in India for online bookings.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Who should consider getting this genetic test?
Individuals exhibiting symptoms of ATLD, those with a family history of the disorder, or patients referred by a neurologist for genetic diagnosis.
What does a positive test result mean?
A positive result confirms the diagnosis of Ataxia Telangiectasia Like Disorder due to MRE11 gene mutations, guiding treatment and genetic counseling.
How accurate is the NGS Genetic Test for MRE11?
The test uses advanced NGS technology with high accuracy, but results should be interpreted in conjunction with clinical evaluation and family history.
Is genetic counseling provided with the test?
Yes, the test includes interpretation by genetic counselors and medical professionals, with counseling sessions recommended before and after testing.
Can this test be performed on children?
Yes, the test is suitable for all ages, including children, when recommended by a healthcare provider based on symptoms or family history.
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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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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