MEF2C Gene Mental retardation, autosomal dominant type 20 NGS Genetic Test
Short Name: MEF2C NGS Test
Also known as: MEF2C-related severe neurodevelopmental disorder, MEF2C-associated syndrome, Mental retardation, autosomal dominant 20
MEF2C Gene Mental retardation, autosomal dominant type 20 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. 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
To detect mutations in the MEF2C gene associated with autosomal dominant mental retardation type 20, thereby confirming the diagnosis and enabling accurate genetic counselling.
- Test Code
- 4235
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing confirmation
Sample Collection
No special preparation such as fasting is required for this test. However, patients are advised to share clinical history and any prior genetic test results.
Method: Blood draw / saliva collection
Laboratory Analysis
A trained phlebotomist will collect a small blood sample (2-3 ml) in an EDTA tube. Alternatively, a buccal swab or FTA card blood spot may be collected.
Report Delivery
No specific post-collection precautions are needed. You may resume normal activities immediately.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the MEF2C gene associated with autosomal dominant mental retardation type 20, thereby confirming the diagnosis and enabling accurate genetic counselling.
How to Prepare
- Kindly carry a valid government ID
- Inform the lab about any medications
- Ensure the FTA card is properly dried if used
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing plays an essential role in understanding developmental disorders and guiding families towards appropriate support and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolyzed blood sample
- Clotted blood sample
- Incorrectly labelled sample
- Sample received in expired or leaking container
Understanding Your Results
Positive - Pathogenic/Likely Pathogenic Variant
Confirms the diagnosis of MEF2C-related intellectual disability.
Negative - No Pathogenic Variant Detected
Reduces but does not exclude MEF2C-related intellectual disability.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its effect on gene function is unknown; further testing or family studies may be recommended.
If the test result is positive, it is strongly recommended to consult a clinical geneticist for a formal diagnosis, genetic counselling, and reproductive planning. A negative result should still be followed up with a physician if symptoms persist or progress.
Limitations
- ⚠Targeted NGS only evaluates the MEF2C gene; it will not detect mutations in other genes associated with intellectual disability.
- ⚠The test is not designed to detect large chromosomal rearrangements or epigenetic changes.
- ⚠A negative result does not rule out a clinical diagnosis of MEF2C-related intellectual disability, as mutations in non-coding regulatory regions may be missed.
Risks & Considerations
- ●Minimal pain or bruising at the blood draw site
- ●Rare possibility of infection or excessive bleeding
- ●No other significant risks are associated with this genetic test.
Interfering Factors
- ●Very low DNA concentration
- ●Bacterial contamination of sample
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare intronic variants not covered by targeted NGS
- ●Large deletions/duplications not detected by sequencing (if not included)
Frequently Asked Questions
What is the MEF2C gene?
What is Mental Retardation, Autosomal Dominant Type 20?
How is MEF2C-related intellectual disability inherited?
What are the common symptoms of MEF2C-related intellectual disability?
Who should undergo this NGS genetic test?
Is fasting required before the sample collection?
What sample is needed for the test?
What does a positive test result mean?
What does a negative result mean?
How long will the reports take?
What is the cost of this test?
Do you offer home sample collection?
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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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