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SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic Test

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SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic Test

Short Name: SMC1A Gene CdLS Type 2 NGS Test

Also known as: CdLS Type 2, SMC1A-related Cornelia de Lange syndrome

SMC1A Gene Cornelia de Lange syndrome type 2 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

To identify mutations in the SMC1A gene for the diagnosis of Cornelia de Lange Syndrome Type 2, aiding in clinical management and genetic counseling.

Test Code
4868
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

Obtain clinical history and conduct a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or use FTA card for one drop of blood, following standard aseptic techniques.

Step 3

Report Delivery

Label the sample correctly and transport to the laboratory under ambient room temperature conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, obtain informed consent, and review family history.
2
During the Test:Blood sample collection is performed, which is a minimally invasive procedure.
3
After the Test:Wait for 3 to 4 weeks for results, then follow up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To identify mutations in the SMC1A gene for the diagnosis of Cornelia de Lange Syndrome Type 2, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification and sample labeling
  • Use sterile collection equipment
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"Early genetic testing for SMC1A mutations is vital for timely intervention and management of Cornelia de Lange Syndrome Type 2, especially in pediatric cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: Stable for 24 hours at room temperature
FTA card: Stable for several years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of mutations in the SMC1A gene, which are associated with Cornelia de Lange Syndrome Type 2.
📊

Pathogenic mutation detected

Consistent with a diagnosis of Cornelia de Lange Syndrome Type 2. Clinical correlation and genetic counseling recommended.

📊

No pathogenic mutation detected

CdLS Type 2 is unlikely based on this gene, but other genetic causes may be considered. Further evaluation may be needed.

⚠️ When to Consult a Doctor:

If symptoms suggestive of Cornelia de Lange Syndrome are present, or for family planning in cases with a known family history.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Compare With Similar Tests

TestSMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic Test
ComparisonSMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is the SMC1A Gene Cornelia de Lange Syndrome Type 2 NGS Genetic Test?
This test uses Next-Generation Sequencing (NGS) to detect mutations in the SMC1A gene, which causes Cornelia de Lange Syndrome Type 2, a rare genetic disorder.
Who should consider this test?
Individuals with symptoms like developmental delays, distinctive facial features, or a family history of CdLS, as well as those planning for genetic counseling.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture, or a drop of blood can be placed on an FTA card. Home collection is available.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if mutations in the SMC1A gene are detected. A positive result suggests CdLS Type 2, while a negative result makes it less likely.
Is genetic counseling recommended?
Yes, genetic counseling is strongly recommended before and after the test to understand implications and manage expectations.
Can this test be done for prenatal diagnosis?
This test is typically for postnatal diagnosis. For prenatal testing, consult a genetic specialist for appropriate options.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Psychological impact of results is possible, hence counseling is advised.
Is the test covered by insurance?
Coverage varies by insurance plan. It is not typically covered under government schemes like PMJAY or CGHS; check with your provider.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting gene mutations, but it may not identify all types of variants. Clinical correlation is essential.
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.

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✓ 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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