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MECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic Test

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MECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic Test

Short Name: MECP2 Genetic Test

Also known as: Rett syndrome genetic test, MECP2 mutation analysis, X-linked mental retardation type 13 genetic test

MECP2 Gene Mental retardation, X-Linked type 13 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 from sample receipt at the laboratory. 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

The primary purpose of the MECP2 Gene NGS Genetic Test is to diagnose genetic mutations responsible for MECP2-related disorders, facilitating early detection, personalized treatment plans, informed family planning decisions, and eligibility for targeted therapies or clinical trials.

Test Code
1697
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt at the laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss implications and draw a pedigree chart. No special preparation required.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture from a vein in the arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball. Resume normal activities immediately; avoid heavy lifting if bruising occurs.

Timeline: 3 to 4 weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, risks, benefits, and obtain consent. No specific patient preparation required.
2
During the Test:A simple blood draw is performed, taking about 5-10 minutes with minimal discomfort.
3
After the Test:Wait for results in 3-4 weeks. Follow up with your doctor for report interpretation and next steps.

About This Test

Who Should Get This Test

The primary purpose of the MECP2 Gene NGS Genetic Test is to diagnose genetic mutations responsible for MECP2-related disorders, facilitating early detection, personalized treatment plans, informed family planning decisions, and eligibility for targeted therapies or clinical trials.

How to Prepare

  • Ensure informed consent is obtained
  • Bring identification and referral letter if applicable
  • Inform the collector about any medications or anticoagulant use
  • For FTA cards, follow specific instructions for blood application

Doctor's Notes

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

"As an OB-GYN, I recommend this test for families with a history of X-linked disorders to guide reproductive decisions and early intervention for affected individuals."

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
ContainerVacutainer tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for extended periods at room temperature
Extracted DNA stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or missing information
  • Contaminated or degraded samples

Understanding Your Results

Results are interpreted by identifying pathogenic variants in the MECP2 gene using NGS technology. The presence of such variants indicates a diagnosis of MECP2-related disorder, while absence suggests no detectable mutation, though clinical correlation is essential.
📊

Positive for pathogenic variant

Diagnosis of MECP2-related disorder confirmed. Clinical correlation, genetic counseling, and management by a neurologist recommended.

📊

Negative for pathogenic variants

No MECP2 mutation detected. Consider other genetic tests if clinical suspicion remains high.

📊

Variant of uncertain significance (VUS)

Further testing, family studies, and clinical follow-up required for reclassification.

⚠️ When to Consult a Doctor:

Upon receiving results, consult a geneticist, neurologist, or referring physician for interpretation, management planning, and genetic counseling, especially if symptoms persist or worsen.

Limitations

  • ⚠May not detect all types of mutations, such as deep intronic variants
  • ⚠Variants of uncertain significance require further evaluation
  • ⚠Does not rule out other genetic causes of intellectual disability
  • ⚠Results are based on current database interpretations and may be updated

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or soreness at the puncture site
  • ●Rare risk of infection
  • ●Emotional or psychological impact of genetic results

Interfering Factors

  • ●Sample degradation due to improper storage
  • ●Contamination during collection or processing
  • ●Insufficient DNA quantity for analysis

Compare With Similar Tests

TestMECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic TestRett Syndrome Genetic PanelX-Linked Intellectual Disability NGS PanelWhole Exome SequencingChromosomal Microarray
ComparisonMECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic TestFocuses on genes associated with Rett syndrome beyond MECP2, providing broader coverage for related disorders.Includes multiple genes linked to X-linked intellectual disability, useful for differential diagnosis.Analyzes all exons genome-wide, offering comprehensive detection but at higher cost and longer turnaround.Detects large copy number variants but not point mutations, complementing NGS for structural abnormalities.

Frequently Asked Questions

What is the MECP2 Gene Genetic Test?
It is an NGS-based test that analyzes the MECP2 gene for mutations associated with Rett syndrome and X-linked intellectual disability type 13.
Why is this test important?
Early diagnosis through this test allows for timely intervention, personalized management, and informed family planning, improving patient outcomes.
Who should consider getting tested?
Individuals with intellectual disability, developmental delays, seizures, or a family history of MECP2-related disorders should consider testing.
How is the test performed?
A blood sample is collected and analyzed using Next-Generation Sequencing to detect mutations in the MECP2 gene.
What is the cost of the MECP2 Gene Test?
The test costs INR 20,000 in India, with free home sample collection available across major cities.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for online bookings in numerous cities nationwide.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from the time the sample is received at the laboratory.
What do the test results indicate?
Results show whether pathogenic variants are present in the MECP2 gene, confirming diagnosis, or indicate no variants, requiring clinical correlation.
Can this test be used for prenatal diagnosis?
Yes, but prenatal testing requires genetic counseling and specialized sample collection; consult a healthcare provider for options.
What are the risks associated with the test?
Risks are minimal, including potential bruising from blood draw and emotional impact; genetic counseling helps mitigate concerns.
How accurate is the MECP2 Gene Test?
NGS technology offers high sensitivity and specificity, but accuracy depends on sample quality and database interpretations; results are reliable for clinical use.
What should I do after receiving the results?
Consult your doctor or a geneticist for interpretation, management plans, and further counseling, especially if results are positive or uncertain.
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

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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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