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SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic Test

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SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic Test

Short Name: SMARCE1 CSS NGS Test

Also known as: Coffin-Siris Syndrome NGS Test, SMARCE1 Mutation Analysis

SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the SMARCE1 gene to confirm a diagnosis of Coffin-Siris Syndrome, determine the genetic basis of symptoms, assess inheritance patterns, and provide information for family planning and genetic counseling.

Test Code
5724
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Coffin-Siris Syndrome.

Method: Blood Draw

Step 2

Laboratory Analysis

Standard blood draw procedure; sample collected in appropriate container.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Blood sample collection and processing for NGS analysis.
3
After the Test:Results are reviewed by geneticists and reported with counseling support.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the SMARCE1 gene to confirm a diagnosis of Coffin-Siris Syndrome, determine the genetic basis of symptoms, assess inheritance patterns, and provide information for family planning and genetic counseling.

How to Prepare

  • No fasting required
  • Provide detailed clinical history
  • Attend genetic counseling session prior to testing
  • Ensure proper sample labeling

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for SMARCE1 is crucial for accurate diagnosis of Coffin-Siris Syndrome, enabling informed family planning and management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the SMARCE1 gene, correlated with clinical features.
Positive result: Pathogenic variant detected, confirming Coffin-Siris Syndrome diagnosis
Negative result: No pathogenic variants detected; clinical suspicion may require further testing
Variant of uncertain significance: Requires additional analysis and genetic counseling
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms suggestive of Coffin-Siris Syndrome are present, or for family planning after a positive genetic test result.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestSMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic TestWhole Exome SequencingChromosomal Microarray Analysis
ComparisonSMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic Test

Frequently Asked Questions

What is Coffin-Siris Syndrome?
Coffin-Siris Syndrome is a rare genetic disorder characterized by developmental delay, intellectual disability, distinctive facial features, and abnormalities of the fingers and toes.
What causes Coffin-Siris Syndrome?
It is caused by mutations in genes such as SMARCE1, which are part of the SWI/SNF chromatin remodeling complex.
How is the SMARCE1 gene related to Coffin-Siris Syndrome?
Mutations in the SMARCE1 gene disrupt chromatin remodeling, leading to the clinical features of Coffin-Siris Syndrome.
Who should get this genetic test?
Individuals with symptoms of Coffin-Siris Syndrome or a family history of the disorder should consider this test.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the SMARCE1 gene from a blood or DNA sample.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic variant in the SMARCE1 gene, confirming a diagnosis of Coffin-Siris Syndrome.
What does a negative result mean?
A negative result means no pathogenic variants were detected, but clinical evaluation may be needed if symptoms persist.
Is genetic counseling included with the test?
Yes, a genetic counseling session is included to discuss results and implications.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers affordable pricing.
How can I book the test?
You can book online through DNA Labs India's website or contact their customer service for assistance.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

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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