MECP2 Full Gene Mutation Analysis (RETT Syndrome) Test
Short Name: MECP2 Mutation Analysis
Also known as: MECP2 Gene Test, Rett Syndrome Genetic Test, MECP2 Sequencing
MECP2 Full Gene Mutation Analysis (RETT Syndrome) Test test available at DNA Labs India for ₹15,000. Uses Sanger Sequencing on Peripheral blood samples. Results in Reports are typically delivered within 8-10 working days after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of MECP2 Full Gene Mutation Analysis is to confirm or rule out a diagnosis of Rett Syndrome by identifying pathogenic variants in the MECP2 gene. This test aids in differentiating Rett Syndrome from other conditions with overlapping features, guiding clinical management, and providing information for recurrence risk assessment in families.
- Test Code
- 6131
- CPT Code
- 81405
- ICD Code
- Q87.1
- Price
- ₹15,000
- Sample Type
- Peripheral blood
- Result Time
- Reports are typically delivered within 8-10 working days after sample collection.
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
No special preparation is required. A doctor's prescription is necessary. Inform your healthcare provider about any medications or supplements.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. There are no restrictions after sample collection.
Timeline: Reports are typically delivered within 8-10 working days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of MECP2 Full Gene Mutation Analysis is to confirm or rule out a diagnosis of Rett Syndrome by identifying pathogenic variants in the MECP2 gene. This test aids in differentiating Rett Syndrome from other conditions with overlapping features, guiding clinical management, and providing information for recurrence risk assessment in families.
How to Prepare
- Ensure the EDTA vacutainer is properly labeled with patient details
- Collect 2 ml of peripheral blood
- Transport the sample in a cool pack to the laboratory
- Avoid hemolysis during collection
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early diagnosis of Rett Syndrome through MECP2 testing is crucial for timely intervention and management. Genetic counseling is recommended for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect anticoagulant tube
- Insufficient sample volume
- Sample received after prolonged transit without proper temperature control
Understanding Your Results
Positive
Pathogenic variant detected in MECP2 gene, confirming the diagnosis of Rett Syndrome. Genetic counseling is recommended for family members.
Negative
No pathogenic variant found. Rett Syndrome is less likely, but other genetic causes should be considered.
Variant of Uncertain Significance
A genetic variant was found, but its clinical significance is unclear. Further testing and family studies may be needed.
Consult a geneticist or pediatric neurologist if your child shows regression of developmental milestones, loss of hand skills, or other features suggestive of Rett Syndrome. Early consultation can lead to timely diagnosis and management.
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample volume
- ●Mutations in non-coding regions not covered by Sanger sequencing
- ●Large deletions/duplications not detected by sequencing alone
Compare With Similar Tests
| Test | MECP2 Full Gene Mutation Analysis (RETT Syndrome) | CDKL5 Gene Mutation Analysis | FOXG1 Gene Mutation Analysis | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | MECP2 Full Gene Mutation Analysis (RETT Syndrome) |
Frequently Asked Questions
What is MECP2 Full Gene Mutation Analysis?
Who should undergo this test?
What is the cost of the test?
Is fasting required before the test?
What sample is needed?
How long does it take to get results?
Can this test detect all cases of Rett Syndrome?
Is home sample collection available?
Do I need a doctor's prescription?
Is the test covered by insurance?
What does a positive result mean?
What is the turnaround time for reports?
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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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