MECP2 Gene Angelman-Like Syndrome NGS Genetic Test
Short Name: MECP2 Angelman-Like Syndrome NGS Test
Also known as: MECP2 Gene Mutation Test, MECP2 Next-Generation Sequencing Test, Angelman-Like Syndrome DNA Test, Methyl-CpG-Binding Protein 2 Gene Test, MECP2 Sequencing Analysis
MECP2 Gene Angelman-Like Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Pipeline Analysis, Copy Number Variation (CNV) Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via online portal, email, and WhatsApp. Urgent cases may be accommodated upon request—contact DNA Labs India for expedited processing options.. 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 primary purpose of the MECP2 Gene Angelman-Like Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MECP2 gene that cause Angelman-like syndrome. This test enables clinicians to confirm a molecular diagnosis, differentiate Angelman-like syndrome from classic Angelman syndrome and other neurodevelopmental disorders, guide personalized treatment and management plans, provide accurate genetic counseling regarding recurrence risks, and facilitate family planning decisions. It is also used for carrier testing in family members and prenatal or preimplantation genetic diagnosis when a familial mutation is known.
- Test Code
- 1520
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via online portal, email, and WhatsApp. Urgent cases may be accommodated upon request—contact DNA Labs India for expedited processing options.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation Sequencing, Bioinformatics Pipeline Analysis, Copy Number Variation (CNV) Analysis
Sample Collection
Pre-test genetic counseling is recommended to review the patient's clinical history, draw a pedigree chart of family members affected with MECP2 gene-related conditions, discuss the implications of possible test outcomes, and obtain informed consent. No fasting is required. Ensure all relevant clinical information is provided to the testing laboratory.
Method: Venipuncture / FTA Card Prick
Laboratory Analysis
A blood sample of 3-5 mL is collected via venipuncture into an EDTA (lavender top) tube. Alternatively, one drop of blood can be collected on an FTA card. The sample is labeled with the patient's details and transported to the laboratory under appropriate conditions.
Report Delivery
After sample collection, the patient may resume normal activities. The sample undergoes DNA extraction, library preparation, and NGS sequencing in the laboratory. Results are typically available within 3 to 4 weeks. A genetic counseling session is recommended after receiving results to discuss findings, implications, and next steps.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via online portal, email, and WhatsApp. Urgent cases may be accommodated upon request—contact DNA Labs India for expedited processing options.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the MECP2 Gene Angelman-Like Syndrome NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MECP2 gene that cause Angelman-like syndrome. This test enables clinicians to confirm a molecular diagnosis, differentiate Angelman-like syndrome from classic Angelman syndrome and other neurodevelopmental disorders, guide personalized treatment and management plans, provide accurate genetic counseling regarding recurrence risks, and facilitate family planning decisions. It is also used for carrier testing in family members and prenatal or preimplantation genetic diagnosis when a familial mutation is known.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) vacutainer tube
- Alternatively, collect one drop of blood on an FTA Card
- Gently invert the EDTA tube 8-10 times immediately after collection to prevent clotting
- Label the sample clearly with patient name, date of birth, date and time of collection
- Store the blood sample at 2-8°C (refrigerated) until dispatch
- Do not freeze the whole blood sample
- Transport the sample to the laboratory within 7 days of collection
- Ensure cold chain maintenance during transport using gel packs or insulated containers
- Include completed test requisition form and clinical history
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a neurologist, I frequently encounter children presenting with developmental delays, seizures, and behavioral features that closely mimic Angelman syndrome. The MECP2 Gene Angelman-Like Syndrome NGS Genetic Test is invaluable in differentiating true Angelman syndrome—typically caused by UBE3A gene or 15q11-q13 region abnormalities—from Angelman-like presentations caused by MECP2 gene mutations. This distinction is critical because the management strategies, genetic counseling approaches, and recurrence risks differ significantly between these conditions. Early and accurate molecular diagnosis through NGS technology allows for tailored therapeutic interventions, appropriate family planning guidance, and better prognostic understanding. I recommend this test for any patient presenting with unexplained developmental regression, treatment-resistant seizures, and characteristic behavioral features suggestive of an Angelman-like phenotype."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume for DNA extraction
- Improperly labeled or unlabeled sample
- Sample received beyond the stability period
- Leaking or damaged sample container
- Missing requisition form or clinical history
Understanding Your Results
No Pathogenic Variant Detected
Normal / Negative
Pathogenic Variant Detected
Positive / Disease-Causing
Likely Pathogenic Variant Detected
Likely Positive
Variant of Uncertain Significance (VUS)
Indeterminate
Likely Benign Variant
Likely Negative
Copy Number Variation (CNV) Detected
Variable - Requires Correlation
Consult a neurologist or clinical geneticist if your child or family member shows signs of unexplained developmental delay, intellectual disability, seizures, speech impairment, unusual movement patterns, or behavioral abnormalities resembling Angelman syndrome. Early genetic evaluation is critical for accurate diagnosis, appropriate intervention, and family planning. Seek immediate medical advice if seizures are present or worsening.
Limitations
- ⚠This test does not detect epigenetic or methylation abnormalities in the MECP2 gene
- ⚠Deep intronic mutations and regulatory region variants outside the sequenced regions may not be detected
- ⚠This test does not assess for mutations in the UBE3A gene or 15q11-q13 region associated with classic Angelman syndrome
- ⚠Low-level mosaicism (below approximately 15-20% allele frequency) may not be reliably detected
- ⚠The clinical significance of some detected variants may remain uncertain (VUS)
- ⚠This test is not a substitute for comprehensive clinical evaluation by a qualified geneticist or neurologist
- ⚠Structural variants or complex rearrangements beyond the detection capability of NGS may require additional testing such as chromosomal microarray or FISH
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Slight risk of infection at the needle insertion point (rare with proper technique)
- ●Potential psychological impact of receiving a genetic diagnosis—genetic counseling is recommended
- ●Risk of identifying variants of uncertain significance (VUS) which may cause anxiety without providing definitive answers
Interfering Factors
- ●Hemolyzed blood sample may affect DNA extraction quality
- ●Insufficient sample volume leading to inadequate DNA yield
- ●Recent blood transfusion (within 120 days) may interfere with patient DNA analysis
- ●DNA degradation due to improper sample storage or prolonged transit time
- ●Contamination during sample collection or processing
- ●Low-level mosaicism may not be reliably detected at standard sequencing depth
Compare With Similar Tests
| Test | MECP2 Gene Angelman-Like Syndrome NGS Genetic Test | UBE3A Gene Angelman Syndrome NGS Test | Angelman Syndrome Methylation-Specific PCR | Chromosomal Microarray Analysis (CMA) | Rett Syndrome MECP2 Gene Panel | Epilepsy Gene Panel NGS Test |
|---|---|---|---|---|---|---|
| Comparison | MECP2 Gene Angelman-Like Syndrome NGS Genetic Test | Detects mutations in the UBE3A gene which is the primary gene associated with classic Angelman syndrome. The MECP2 test targets a different gene that causes Angelman-like (not classic) syndrome. A negative UBE3A test with Angelman-like features may warrant MECP2 testing. | Detects methylation abnormalities at the 15q11-q13 imprinting center, a common cause of Angelman syndrome. This test addresses a different molecular mechanism (epigenetic) compared to the MECP2 NGS test which detects sequence-level mutations. | Detects large chromosomal deletions and duplications genome-wide, including the 15q11-q13 region. However, CMA does not detect point mutations or small indels in the MECP2 gene. The two tests are complementary rather than interchangeable. | Uses the same gene target (MECP2) but is specifically interpreted in the context of Rett syndrome phenotype, which differs clinically from Angelman-like syndrome. The same mutation may be reported differently based on the clinical indication and interpretation framework. | A broader panel that includes multiple genes associated with epilepsy and neurodevelopmental disorders, potentially including MECP2. The single-gene MECP2 test provides more focused and in-depth analysis of this specific gene. |
Frequently Asked Questions
What is the MECP2 Gene Angelman-Like Syndrome NGS Genetic Test?
Who should get the MECP2 Gene Angelman-Like Syndrome NGS Genetic Test?
What is the difference between Angelman syndrome and Angelman-like syndrome?
What sample is required for this test?
How long does it take to get the results?
What does a positive result mean?
What is the cost of the MECP2 Gene Angelman-Like Syndrome NGS Genetic Test?
Is home sample collection available for this test?
What are FASTQ and VCF files, and why should I request them?
Can this test be performed on a fetus or during pregnancy?
Is genetic counseling required before taking this test?
What treatment options are available after a diagnosis of MECP2-related Angelman-like syndrome?
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