SMARCB1 Gene Mental retardation, autosomal dominant type 15 NGS Genetic Test
Short Name: SMARCB1 NGS Genetic Test
Also known as: SMARCB1 Gene Sequencing Test, SMARCB1-Related Intellectual Disability Type 15 Genetic Test, MRD15 NGS Test, SMARCB1 Gene Mutation Analysis
SMARCB1 Gene Mental retardation, autosomal dominant type 15 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 generally available 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
To detect sequence variants in the SMARCB1 gene that may be associated with autosomal dominant type 15 mental retardation / intellectual disability. The NGS-based analysis also identifies clinically relevant variants to support diagnosis, medical management, and genetic counselling.
- Test Code
- 4231
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. Clinical history and family history should be provided. A genetic counseling session is recommended before testing.
Method: Peripheral blood venipuncture / FTA card blood spot / DNA submission
Laboratory Analysis
A small blood sample is collected by venipuncture, or a few drops of blood are placed on an FTA card, depending on the selected sample type.
Report Delivery
There are no post-collection restrictions. You may resume normal activities after sample collection.
Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect sequence variants in the SMARCB1 gene that may be associated with autosomal dominant type 15 mental retardation / intellectual disability. The NGS-based analysis also identifies clinically relevant variants to support diagnosis, medical management, and genetic counselling.
How to Prepare
- Collect blood in an EDTA tube using standard phlebotomy technique.
- Alternatively, spot one drop of blood on an FTA card and allow it to dry.
- Label the sample with patient name and unique identification number.
- Transport whole blood at 2–8°C or FTA card at room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A confirmed genetic diagnosis can guide targeted management, family risk assessment, and genetic counselling. This test should be ordered only after appropriate clinical evaluation and counselling by a qualified specialist."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled sample
- Clotted or haemolysed blood
- Insufficient sample quantity
- Sample transported in formalin or paraffin block without prior approval
Understanding Your Results
No pathogenic variant detected
Negative result; does not confirm SMARCB1-related intellectual disability. Other genetic or non-genetic causes should be considered.
Action: Discuss further evaluation options with a specialist
Pathogenic or likely pathogenic variant detected
The variant is considered disease-causing and supports the clinical diagnosis.
Action: Genetic counselling, family segregation studies, and medical management planning are recommended
Variant of uncertain significance (VUS)
The clinical significance of the variant is currently unknown.
Action: Further family testing, additional tests, and specialist review may be required
Consult a clinical geneticist, neurologist, or referring specialist if the patient has features of intellectual disability, delayed development, or a family history of genetic disease, or if the test result is positive or uncertain.
Limitations
- ⚠Targeted NGS may not detect large gene deletions/duplications, deep intronic variants, or trinucleotide repeat expansions
- ⚠This test does not evaluate all genes associated with intellectual disability
- ⚠Variants of uncertain significance may be reported and may require further family studies
- ⚠Results should always be interpreted in the context of clinical and family history
Risks & Considerations
- ●Minimal discomfort or bruising at the blood collection site
- ●Rare likelihood of anxiety associated with genetic testing
- ●Possible variant of uncertain significance requiring further evaluation
Interfering Factors
- ●Poor DNA quality or quantity may affect sequencing accuracy
- ●Sample contamination may cause unreliable results
- ●Recent allogeneic bone marrow transplantation may influence germline testing
- ●Rare primer-binding-site variants may cause allele drop-out
Compare With Similar Tests
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| Comparison | SMARCB1 Gene Mental retardation, autosomal dominant type 15 NGS Genetic Test |
Frequently Asked Questions
What is SMARCB1 gene mental retardation, autosomal dominant type 15?
What does the SMARCB1 NGS genetic test detect?
Who should consider this SMARCB1 gene test?
What sample types are accepted for this test?
Do I need to fast before the SMARCB1 gene test?
How is SMARCB1 gene testing done with NGS technology?
What is the cost of the SMARCB1 gene mental retardation type 15 NGS genetic test?
Where can I get this test done in India?
How long will it take to get the reports?
Are home sample collection services available for this test?
What do the test results mean?
Can this test detect all causes of intellectual disability?
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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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✓ 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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