SMARCA4 Gene Mental retardation, autosomal dominant type 16 NGS Genetic Test
Short Name: SMARCA4 MRD16 NGS Test
Also known as: SMARCA4 Gene Mutation Test, SMARCA4-Related Intellectual Disability Test, Mental Retardation Type 16 Genetic Test
SMARCA4 Gene Mental retardation, autosomal dominant type 16 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 available within 3 to 4 weeks after sample receipt.. 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 identify pathogenic variants in the SMARCA4 gene associated with autosomal dominant mental retardation type 16, confirming the clinical diagnosis and enabling informed genetic counseling and management.
- Test Code
- 4230
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Provide complete clinical history and results of any prior genetic testing. A genetic counseling session is recommended to draw a pedigree chart of family members affected with similar conditions.
Method: Venipuncture or Dried Blood Spot
Laboratory Analysis
Blood sample will be collected by an experienced phlebotomist. For FTA cards, one drop of blood from a finger prick is applied to the card.
Report Delivery
No special precautions. Resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the SMARCA4 gene associated with autosomal dominant mental retardation type 16, confirming the clinical diagnosis and enabling informed genetic counseling and management.
How to Prepare
- This test requires a blood sample (EDTA), extracted DNA, or one drop of blood on an FTA card.
- Ensure the sample is labeled with patient name, date, and time of collection.
- Complete the test request form with clinical history and consent.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A positive SMARCA4 test result can help families understand the recurrence risk and guide prenatal testing options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient sample quantity
- Wrong sample container or anticoagulant
- Mislabeled sample or missing clinical information
Understanding Your Results
Pathogenic
Likely pathogenic
Variant of Uncertain Significance (VUS)
Benign/Likely benign
Please consult a clinical geneticist or neurologist to discuss the test results and appropriate medical management.
Limitations
- ⚠NGS cannot reliably detect certain types of mutations such as large structural chromosomal rearrangements, trinucleotide repeat expansions, or deep intronic variants.
- ⚠A negative result does not rule out a genetic cause of intellectual disability; other genes or non-genetic causes should be considered.
- ⚠Variant of uncertain significance may require further family studies.
Risks & Considerations
- ●There are no significant clinical risks associated with a simple blood draw or saliva sample. Minimal pain, bruising, or bleeding at the puncture site may occur.
Interfering Factors
- ●Maternal cell contamination in prenatal or cord blood samples may cause false negatives.
- ●Recent allogeneic stem cell transplantation can lead to donor-derived DNA results.
- ●Low DNA concentration or degradation may affect sequencing quality.
Compare With Similar Tests
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| Comparison | SMARCA4 Gene Mental retardation, autosomal dominant type 16 NGS Genetic Test |
Frequently Asked Questions
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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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