MECP2 Gene Autism Susceptibility, X-Linked Type 3 NGS Genetic Test
Short Name: MECP2 Autism Susceptibility NGS (X-Linked Type 3)
Also known as: MECP2 gene test, X-linked type 3 ASD genetic test, MECP2 autism susceptibility NGS panel
MECP2 Gene Autism Susceptibility, X-Linked Type 3 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 typically issued within 3 to 4 weeks after the sample is received. You can download the report from the online portal or receive it by email/WhatsApp.. 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 test is to detect clinically significant variants in the MECP2 gene that may increase susceptibility to X-linked type 3 autism spectrum disorder. The result helps confirm or exclude a MECP2-related genetic contribution in a patient with developmental delay, intellectual disability, seizures or autism-like features, and supports genetic counselling and early intervention planning.
- Test Code
- 3912
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically issued within 3 to 4 weeks after the sample is received. You can download the report from the online portal or receive it by email/WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session to draw a pedigree chart of affected family members is recommended before testing. Please carry the test request form and any relevant medical records. For children, keep them calm and comfortable during collection.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A small blood sample is collected from the arm. When using an FTA card, a few drops of blood are placed on the designated circles. The procedure is quick and generally causes minimal discomfort.
Report Delivery
The sample is sent to the laboratory. No special precautions are required after sample collection. The report is usually available in 3 to 4 weeks.
Timeline: Reports are typically issued within 3 to 4 weeks after the sample is received. You can download the report from the online portal or receive it by email/WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect clinically significant variants in the MECP2 gene that may increase susceptibility to X-linked type 3 autism spectrum disorder. The result helps confirm or exclude a MECP2-related genetic contribution in a patient with developmental delay, intellectual disability, seizures or autism-like features, and supports genetic counselling and early intervention planning.
How to Prepare
- Use an EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood directly onto the designated circle
- Label the sample tube or card clearly with patient name, date of birth and collection date
- Transport at ambient room temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Because MECP2 variants are X-linked, family history and maternal carrier status may be relevant. An obstetrician-gynaecologist can help coordinate genetic counselling for reproductive planning when a pathogenic variant is identified."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, contaminated, or haemolysed blood sample
- Unlabelled or mislabelled sample
- Insufficient sample volume
- FTA card with inadequate blood spot
Understanding Your Results
Pathogenic/Likely pathogenic variant
The result provides genetic evidence for MECP2-related ASD susceptibility. It does not confirm disease severity; clinical evaluation remains necessary.
Recommendation: Genetic counselling, family studies, and multidisciplinary developmental assessment.
Variant of Uncertain Significance (VUS)
There is currently insufficient evidence to classify this variant as disease-causing.
Recommendation: Segregation testing in family members and further clinical review; do not use for predictive testing.
No pathogenic variant detected
A MECP2-related cause is not identified in this sample.
Recommendation: A broader ASD/intellectual disability gene panel or chromosomal microarray may be considered if clinical suspicion remains high.
Consult a developmental paediatrician, child neurologist, or psychiatrist if the individual has delayed milestones, social communication difficulties, repetitive behaviours, seizures, or loss of skills. Genetic counselling is recommended before and after testing, especially for at-risk family members.
Limitations
- ⚠NGS analysis may not detect all mutation types, including large deletions/duplications, deep intronic variants, trinucleotide repeat expansions or mitochondrial genome abnormalities.
- ⚠A negative result does not exclude a clinical diagnosis of autism spectrum disorder.
- ⚠A variant of uncertain significance cannot be used for prenatal or predictive testing.
- ⚠Clinical interpretation must be integrated with developmental and family history.
Risks & Considerations
- ●Mild pain or discomfort during blood collection
- ●Small bruise or bleeding at the puncture site
- ●Lightheadedness or fainting during blood draw
Interfering Factors
- ●Sample mix-up or incorrectly labelled sample
- ●Poor DNA quality or quantity
- ●Maternal cell contamination in blood samples
- ●Low-level mosaicism below the assay detection limit
- ●Variants requiring analysis beyond NGS, such as large deletions/duplications or repeat expansions
Compare With Similar Tests
| Test | MECP2 Gene Autism Susceptibility, X-Linked Type 3 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | MECP2 Gene Autism Susceptibility, X-Linked Type 3 NGS Genetic Test |
Frequently Asked Questions
What is the MECP2 gene?
What is the purpose of this NGS genetic test?
Who should consider this test?
What sample is needed?
Is fasting required?
How long does it take to get the report?
What is the cost of the test?
What does a pathogenic variant result mean?
What does a negative result mean?
Can this test predict how severe the autism will be?
Is home sample collection available?
Will I receive raw data files with the report?
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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.
Your Data Privacy
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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