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MECP2 Gene Mental retardation X-linked, syndromic, Lubs type NGS Genetic Test

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MECP2 Gene Mental retardation X-linked, syndromic, Lubs type NGS Genetic Test

Short Name: MECP2 NGS Genetic Test

Also known as: MECP2 Gene Mutation Test, X-linked Mental Retardation Lubs type Genetic Test, MECP2 Sequencing, Rett Syndrome Differential Test

MECP2 Gene Mental retardation X-linked, syndromic, Lubs type 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 Results are typically delivered in 3 to 4 weeks after the sample reaches the lab.. Free home collection in 300+ cities across India.

NGS Gene Mutation AnalysisAll Ages🏠 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

To detect mutations in the MECP2 gene that cause X-linked mental retardation Lubs type and related neurodevelopmental disorders, enabling accurate diagnosis, prognosis and genetic counselling.

Test Code
4219
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically delivered in 3 to 4 weeks after the sample reaches the lab.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Please provide a copy of clinical history, prior investigations and a genetic counselling summary if available.

Method: Venipuncture / FTA spot / Saliva kit

Step 2

Laboratory Analysis

A blood sample (3 ml) will be drawn by a trained phlebotomist. For FTA card, one drop of blood is applied. Saliva kit may be used.

Step 3

Report Delivery

No special precautions. You may resume normal activities immediately.

Timeline: Results are typically delivered in 3 to 4 weeks after the sample reaches the lab.

Patient Instructions

1
Before the Test:Expect a pre-test genetic counselling session to document family history and obtain informed consent. Our team will guide you through the process.
2
During the Test:Sample collection takes about 5 minutes. The specimen is securely transported to the laboratory for processing.
3
After the Test:Once results are ready, you will receive a detailed report. A post-test counselling session is recommended to discuss the findings and implications.

About This Test

Who Should Get This Test

To detect mutations in the MECP2 gene that cause X-linked mental retardation Lubs type and related neurodevelopmental disorders, enabling accurate diagnosis, prognosis and genetic counselling.

How to Prepare

  • Blood to be collected in EDTA vacutainer
  • Saliva sample to be collected in Oragene DNA self-collection kit
  • FTA card must be air-dried and placed in the provided pouch
  • Label the sample with patient name, date and time

Doctor's Notes

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

"For families with unexplained intellectual disability, genetic testing for MECP2 mutations is essential. The result directs personalised management and provides crucial information for recurrence risk counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3 ml blood / 1 drop FTA card / as required
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodVenipuncture / FTA spot / Saliva kit

Sample Stability

Blood (EDTA): 24 hours at room temperature
Refrigerated (2-8°C): 1 week
Frozen DNA: 1 month
Sample Rejection Criteria:
  • Hemolyzed blood samples
  • Incorrectly labelled samples
  • Samples received in heparinized tubes
  • Sample containers leaked or broken

Understanding Your Results

The test result is interpreted by a board-certified clinical geneticist. Detection of a pathogenic variant confirms the clinical diagnosis of MECP2-related disorder.
📊

Pathogenic variant detected

A disease-causing mutation is present in the MECP2 gene.

Action: Confirms the diagnosis; indicate genetic counselling for the family and recurrence risk assessment.

📊

No pathogenic variant detected

No mutation was found in the MECP2 gene coding region.

Action: Does not exclude clinical diagnosis; consider alternate genetic causes.

📊

Variant of uncertain significance (VUS)

A DNA change was found but its clinical significance is unknown.

Action: Further targeted testing of family members may help in reclassification.

⚠️ When to Consult a Doctor:

If you or your child have unexplained intellectual disability, regression, seizures or family history of X-linked intellectual disability, consult a clinical geneticist or neurologist to discuss MECP2 genetic testing.

Limitations

  • ⚠This NGS test is designed to detect single nucleotide variants and small indels in the MECP2 gene.
  • ⚠Large deletions/duplications or structural rearrangements may require additional testing such as MLPA.
  • ⚠Variant of uncertain significance (VUS) cannot always be clinically classified.
  • ⚠Mutations in genes other than MECP2 will not be detected by this test.

Risks & Considerations

  • ●Minor pain or bruising at the needle site
  • ●Very small risk of infection (routine phlebotomy)
  • ●No significant medical risk from the test itself

Interfering Factors

  • ●Poor quality or degraded DNA
  • ●Contamination with exogenous DNA
  • ●Incomplete clinical history may affect interpretation
  • ●Hematopoietic stem cell transplant has been known to interfere with analysis

Compare With Similar Tests

TestMECP2 Gene Mental retardation X-linked, syndromic, Lubs type NGS Genetic Test
ComparisonMECP2 Gene Mental retardation X-linked, syndromic, Lubs type NGS Genetic Test

Frequently Asked Questions

What is the MECP2 gene?
MECP2 provides instructions for making a protein essential for normal brain function. Mutations in this gene are linked to several X-linked neurodevelopmental disorders.
What is Lubs type mental retardation?
It is a form of X-linked intellectual disability caused by MECP2 gene mutations, characterized by severe intellectual disability, speech delay, seizures and autistic-like behaviors.
Who should get this genetic test?
Individuals presenting with intellectual disability, developmental regression, seizures or features suggesting MECP2-related disorder, and families with X-linked intellectual disability history.
What does NGS genetic test mean?
NGS (Next Generation Sequencing) is a high-throughput technology that can rapidly sequence the entire MECP2 gene to detect mutations with high accuracy.
What type of sample is needed?
Blood, extracted DNA, saliva or one drop of blood on an FTA card can be used. Home sample collection is available free of cost.
How long does it take to get results?
The turnaround time is approximately 3 to 4 weeks from sample submission.
What is the cost of the test?
The special discounted price is Rs 20000 INR, inclusive of home sample collection and comprehensive report.
Are there any side effects or risks?
There are no major risks. Only minor discomfort such as a small bruise may occur at the blood collection site.
Can this test be done during pregnancy?
Prenatal testing may be possible in selected cases. It requires prior counselling and an obstetrician's referral.
What does a positive result mean?
A positive result indicates a pathogenic mutation in MECP2, confirming the clinical diagnosis. Genetic counselling is strongly recommended.
Will the test detect all types of mutations?
NGS detects point mutations and small insertions/deletions. Large deletions or duplications may need complementary testing such as MLPA.
Why are raw data files provided?
DNA Labs India is transparent. We provide raw data files like FASTQ and VCF along with the clinical report, allowing independent verification if needed.
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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