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SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic Test

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SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic Test

Short Name: SMC3 CdLS Type 3 NGS Test

Also known as: CdLS Type 3 Genetic Test, SMC3 Mutation Analysis, Cornelia de Lange Syndrome Type 3 DNA Test

SMC3 Gene Cornelia de Lange syndrome type 3 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. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

To identify pathogenic mutations in the SMC3 gene for accurate diagnosis of Cornelia de Lange Syndrome Type 3, guiding clinical management and genetic counseling.

Test Code
4870
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart. No fasting required.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to puncture site; store sample as per instructions. Report any discomfort.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw family pedigree. No special preparation needed.
2
During the Test:Sample collection via blood draw or FTA card. Procedure is quick and minimally invasive.
3
After the Test:Results available in 3-4 weeks. Follow-up with healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SMC3 gene for accurate diagnosis of Cornelia de Lange Syndrome Type 3, guiding clinical management and genetic counseling.

How to Prepare

  • Use EDTA tube for blood samples
  • Avoid hemolysis during collection
  • For FTA card, follow manufacturer's instructions
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is essential for confirming Cornelia de Lange Syndrome Type 3, enabling early intervention and family genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood samples stable for 7 days at 2-8°C
FTA card samples stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SMC3 gene, aiding in the diagnosis of Cornelia de Lange Syndrome Type 3.
📊

Positive

Pathogenic variant detected in SMC3 gene, consistent with CdLS type 3. Clinical correlation and genetic counseling advised.

📊

Negative

No pathogenic variants detected. Clinical evaluation should continue if symptoms persist.

📊

Variant of Uncertain Significance

A variant was found but its clinical significance is unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider immediately after receiving results for management, counseling, and family planning advice.

Limitations

  • ⚠May not detect all mutation types (e.g., large deletions or duplications)
  • ⚠Requires correlation with clinical findings
  • ⚠Genetic counseling recommended for interpretation
  • ⚠Results may include variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of results
  • ●Potential for uncertain findings requiring further evaluation

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incomplete clinical history
  • ●Hemolyzed or clotted blood samples

Frequently Asked Questions

What is the SMC3 Gene CdLS Type 3 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the SMC3 gene, which causes Cornelia de Lange Syndrome Type 3.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to identify variants in the SMC3 gene.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of CdLS type 3?
Symptoms include developmental delay, intellectual disability, distinctive facial features, limb abnormalities, gastrointestinal issues, seizures, and behavioral problems.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing and reports.
Can the test be done at home?
Yes, free home sample collection is available for online bookings in many cities across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but results should be correlated with clinical findings.
What should I do if the test is positive?
Consult a geneticist or healthcare provider for management, genetic counseling, and family planning.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but psychological impact of results should be considered.
How can I prepare for the test?
Provide clinical history and undergo genetic counseling. No fasting or special preparation is required.
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

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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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