SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test
Short Name: SMARCA2 NGS Test
Also known as: NCBRS Genetic Test, SMARCA2 Gene Sequencing, Nicolaides-Baraitser Syndrome NGS Panel
SMARCA2 Gene Nicolaides Baraitser syndrome 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 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or rule out Nicolaides-Baraitser Syndrome by detecting pathogenic variants in the SMARCA2 gene. It is indicated for individuals presenting with clinical features suggestive of NCBRS, such as intellectual disability, seizures, dysmorphic facial features, and skeletal anomalies. The test also aids in carrier testing, prenatal diagnosis, and genetic counseling for affected families.
- Test Code
- 5864
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended to discuss the test and draw a pedigree chart.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by venipuncture or via FTA card. Ensure proper labeling and handling.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out Nicolaides-Baraitser Syndrome by detecting pathogenic variants in the SMARCA2 gene. It is indicated for individuals presenting with clinical features suggestive of NCBRS, such as intellectual disability, seizures, dysmorphic facial features, and skeletal anomalies. The test also aids in carrier testing, prenatal diagnosis, and genetic counseling for affected families.
How to Prepare
- Use EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood on the designated area
- Label the sample with patient ID and date
- Transport at room temperature within 24 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Nicolaides-Baraitser Syndrome is crucial for appropriate management and family counseling. This NGS test provides comprehensive analysis of the SMARCA2 gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Nicolaides-Baraitser Syndrome. Genetic counseling recommended for family members.
Variant of uncertain significance (VUS)
Further testing or segregation analysis may be needed to clarify significance.
No pathogenic variant detected
Does not rule out NCBRS; other genetic causes may be considered.
If you or your child have symptoms suggestive of NCBRS, or if there is a family history, consult a genetic counselor or neurologist for evaluation and testing.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Mutations in other genes may cause similar phenotypes
- ⚠Variant of uncertain significance (VUS) may require further testing
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test | Whole Exome Sequencing | Targeted SMARCA2 Sanger Sequencing |
|---|---|---|---|
| Comparison | SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test | WES analyzes all coding regions of the genome, while this test focuses on the SMARCA2 gene only. WES is more comprehensive but costlier. | Sanger sequencing is less sensitive for mosaic mutations and cannot detect large deletions. NGS offers higher sensitivity and throughput. |
Frequently Asked Questions
What is Nicolaides-Baraitser Syndrome?
How is NCBRS diagnosed?
What is the cost of the SMARCA2 gene NGS test?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
Will I receive raw data files?
Is home sample collection available?
What does the test detect?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
What if the test result is uncertain?
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