MECP2 Gene Encephalopathy neonatal severe NGS Genetic Test
Short Name: MECP2 NGS Test
Also known as: MECP2 Gene Sequencing, MECP2 Mutation Analysis, NGS for MECP2 Gene, MECP2 Encephalopathy Genetic Test
MECP2 Gene Encephalopathy neonatal severe 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 Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify disease-causing mutations in the MECP2 gene, aid in the confirmed diagnosis of neonatal severe encephalopathy, and guide clinical management and genetic counseling.
- Test Code
- 4057
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. Please share any relevant clinical history and prior genetic test reports with the laboratory.
Method: Venipuncture or heel-prick spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect a venous blood sample. For infants, a heel-prick capillary sample can be spotted on an FTA card.
Report Delivery
No specific aftercare is required. You may resume normal activities immediately.
Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the MECP2 gene, aid in the confirmed diagnosis of neonatal severe encephalopathy, and guide clinical management and genetic counseling.
How to Prepare
- Consent form and requisition form with clinical history must be filled
- Collect blood in an EDTA vacutainer or prepare dried blood spot on FTA card
- Label the sample with patient’s name, unique ID, and date/time of collection
- Transport sample to DNA Labs India laboratory within 24 hours at room temperature or under refrigeration as per kit instructions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of MECP2-related encephalopathy enables families to receive appropriate counseling and tailor medical management for the child."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient quantity of blood
- Mislabeled or unlabeled specimens
- Sample received in a tube other than EDTA (e.g., heparin)
- Degraded DNA not suitable for NGS analysis
Understanding Your Results
No pathogenic mutation detected
Pathogenic variant detected
Variant of uncertain significance (VUS) detected
Benign or likely benign variant detected
Consult a pediatric neurologist or clinical geneticist immediately if your newborn exhibits severe developmental delay, refractory seizures, abnormal breathing patterns, or poor tone, especially if MECP2-related encephalopathy is suspected.
Limitations
- ⚠Targeted NGS may fail to detect deep intronic, regulatory, or large structural variants
- ⚠Partial gene deletion/duplication may not be identified unless copy number variant (CNV) analysis is added
- ⚠Variant of uncertain significance (VUS) may require additional familial testing and interpretation
- ⚠Negative result does not completely exclude MECP2-related disorder if another genetic cause is responsible
Risks & Considerations
- ●Mild bruising or discomfort at the blood collection site
- ●Rare risk of infection (very low)
- ●No significant long-term risks are associated with blood sampling
Interfering Factors
- ●Blood samples collected in improper anticoagulant (e.g., heparin) may interfere with DNA amplification
- ●Degraded or fragmented DNA from prolonged storage or transport at ambient temperatures
- ●Presence of maternal cell contamination in neonatal blood samples may affect variant detection
- ●Prior bone marrow transplantation may result in mixed DNA profiles
Compare With Similar Tests
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Frequently Asked Questions
What is the MECP2 Gene Encephalopathy Neonatal Severe NGS Genetic Test?
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What sample is required?
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Is home sample collection available?
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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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