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MRE11 Gene Microcephaly, MRE11A related NGS Genetic Test

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MRE11 Gene Microcephaly, MRE11A related NGS Genetic Test

Short Name: MRE11 NGS Test

Also known as: MRE11A Gene Test, Microcephaly Genetic Test, DNA Repair Gene Test

MRE11 Gene Microcephaly, MRE11A 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 MRE11A related NGS Genetic Test is to identify mutations in the MRE11 gene that cause microcephaly and related neurological conditions. This test aids in confirming diagnosis, guiding treatment strategies, and providing genetic counseling for families.

Test Code
2775
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart. No fasting required.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and analyzed in the lab. Results are delivered online or via email/WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications. No special preparation needed.
2
During the Test:Blood sample collection takes a few minutes. The sample is sent to the lab for NGS analysis.
3
After the Test:Wait for results (3-4 weeks). Follow up with genetic counseling to understand findings.

About This Test

Who Should Get This Test

The purpose of the MRE11A related NGS Genetic Test is to identify mutations in the MRE11 gene that cause microcephaly and related neurological conditions. This test aids in confirming diagnosis, guiding treatment strategies, and providing genetic counseling for families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early genetic testing for MRE11 mutations is crucial for managing microcephaly and related symptoms, enabling timely intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MRE11 gene. Positive results confirm genetic basis for microcephaly, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms MRE11-related microcephaly. Genetic counseling and management recommended.

📊

No pathogenic variant detected

MRE11 gene mutations not found. Consider other genetic or environmental causes.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms of microcephaly are present, or after receiving test results for personalized management and counseling.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestMRE11 Gene Microcephaly, MRE11A related NGS Genetic TestWhole Exome SequencingChromosomal MicroarrayTargeted Gene Panel
ComparisonMRE11 Gene Microcephaly, MRE11A related NGS Genetic Test

Frequently Asked Questions

What is the MRE11 gene?
The MRE11 gene is involved in DNA stability and repair of double-strand breaks. Mutations can lead to microcephaly.
What is microcephaly?
Microcephaly is a neurological condition where the head size is significantly smaller than average, often causing developmental delays.
How is the MRE11 NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the MRE11 gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000, including home sample collection across India.
Is home sample collection available?
Yes, free home collection is offered in many cities nationwide.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of MRE11 gene microcephaly?
Symptoms include abnormally small head size, mental retardation, delayed development, seizures, abnormal facial features, and speech delays.
Is genetic counseling required before testing?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
What if the test results are positive?
Positive results confirm MRE11-related microcephaly. Consult a geneticist for management and family planning.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings with appropriate counseling, but consult a healthcare provider for specifics.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency.
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

Your Data Privacy

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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