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MECP2 Gene Rett syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MECP2 Gene Rett syndrome NGS Genetic Test

Short Name: MECP2 Rett Syndrome Test

Also known as: MECP2 Mutation Test, Rett Syndrome Genetic Test, MECP2 Gene Sequencing

MECP2 Gene Rett syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Genetic Sequencing 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.

Genetic TestFemalePediatric🏠 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 this test is to detect mutations in the MECP2 gene for the diagnosis of Rett syndrome, enabling early intervention, genetic counseling, and personalized management plans.

Test Code
2786
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), Genetic Sequencing
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be drawn via venipuncture or collected on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Store samples as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to understand the test implications.
2
During the Test:A blood sample is collected and sent to the lab for NGS analysis.
3
After the Test:Results are reviewed by a geneticist, and a report is generated with recommendations.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the MECP2 gene for the diagnosis of Rett syndrome, enabling early intervention, genetic counseling, and personalized management plans.

How to Prepare

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

Doctor's Notes

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

"Genetic testing for Rett syndrome is essential for accurate diagnosis and guiding management strategies for affected individuals and their families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or 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 mutations in the MECP2 gene. A positive result confirms genetic predisposition to Rett syndrome, while a negative result may require further testing if clinical suspicion remains.
📊

Positive for pathogenic mutation

Confirms diagnosis of Rett syndrome. Genetic counseling and management planning recommended.

📊

Negative for pathogenic mutation

No MECP2 mutations detected. Consider other genetic or clinical evaluations if symptoms persist.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if your child shows symptoms of Rett syndrome, such as loss of skills or seizures, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all types of MECP2 mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical symptoms

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestMECP2 Gene Rett syndrome NGS Genetic TestMECP2 Deletion/Duplication AnalysisRett Syndrome Comprehensive PanelCDKL5 Gene Test
ComparisonMECP2 Gene Rett syndrome NGS Genetic Test

Frequently Asked Questions

What is Rett syndrome?
Rett syndrome is a rare genetic neurodevelopmental disorder that primarily affects girls, leading to severe cognitive, motor, and communication impairments.
What causes Rett syndrome?
It is primarily caused by mutations in the MECP2 gene, which is essential for brain development and gene regulation.
What are the common symptoms of Rett syndrome?
Symptoms include loss of speech and motor skills, hand-wringing movements, seizures, breathing abnormalities, and scoliosis.
How is Rett syndrome diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the MECP2 Gene NGS Test, to identify mutations.
What is the MECP2 gene?
The MECP2 gene provides instructions for making a protein that regulates gene expression in the brain, crucial for neurological development.
What is NGS genetic testing?
Next Generation Sequencing (NGS) is a advanced technology that sequences DNA to detect genetic mutations with high accuracy.
What is the cost of the MECP2 Gene Rett Syndrome Test?
The test costs INR 20000 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 get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for this test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and understand the implications of testing.
What should I do if the test result is positive?
A positive result confirms Rett syndrome; consult your healthcare provider for management plans, therapy options, and genetic counseling for family planning.
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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