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RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic Test

Short Name: RAD21 CdLS Type 4 NGS Test

Also known as: CdLS Type 4, RAD21-related Cornelia de Lange Syndrome

RAD21 Gene Cornelia de Lange syndrome type 4 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 Test🏠 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 RAD21 gene for accurate diagnosis of Cornelia de Lange Syndrome Type 4, enabling appropriate medical management and genetic counseling.

Test Code
4871
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 patient and genetic counseling session to draw a pedigree chart of family members affected with CdLS.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient room temperature for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and review of clinical history and family pedigree.
2
During the Test:Sample analysis using Next Generation Sequencing (NGS) technology to detect RAD21 gene mutations.
3
After the Test:Report generation, result interpretation, and follow-up counseling.

About This Test

Who Should Get This Test

To identify mutations in the RAD21 gene for accurate diagnosis of Cornelia de Lange Syndrome Type 4, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Fasting not required
  • Provide detailed clinical history
  • Genetic counseling recommended before testing
  • Ensure proper sample labeling

Doctor's Notes

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

"Genetic testing for CdLS4 is crucial for early diagnosis and management. Consult a genetic counselor for personalized advice and family planning."

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

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the RAD21 gene associated with Cornelia de Lange Syndrome Type 4.
📊

Mutation detected

Consistent with diagnosis of Cornelia de Lange Syndrome Type 4. Genetic counseling and clinical management recommended.

📊

No mutation detected

CdLS Type 4 is unlikely, but clinical correlation is necessary. Consider other genetic tests if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms of Cornelia de Lange Syndrome are present, for genetic counseling, or if test results indicate a mutation.

Limitations

  • ⚠Test may not detect all types of mutations
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Limited to RAD21 gene only

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Compare With Similar Tests

TestRAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic Test
ComparisonRAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic Test

Frequently Asked Questions

What is Cornelia de Lange Syndrome Type 4?
Cornelia de Lange Syndrome Type 4 (CdLS4) is a rare genetic disorder caused by mutations in the RAD21 gene, leading to intellectual disability, distinctive facial features, and growth delays.
What is the RAD21 gene?
The RAD21 gene is located on chromosome 8 and plays a role in DNA repair. Mutations in this gene are associated with Cornelia de Lange Syndrome Type 4.
How is the RAD21 gene test performed?
The test uses Next Generation Sequencing (NGS) technology to analyze the RAD21 gene for mutations from a blood or DNA sample.
What is the cost of the RAD21 gene test in India?
The cost is INR 20000, which includes test, counseling, and result interpretation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
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 CdLS4?
Symptoms include severe intellectual disability, arched eyebrows, long eyelashes, small head circumference, growth delays, gastrointestinal problems, and heart defects.
How is CdLS4 diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as the RAD21 gene NGS test, to confirm mutations.
Is genetic testing necessary for CdLS4?
Yes, genetic testing is essential for accurate diagnosis, management, and genetic counseling.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the RAD21 gene, confirming CdLS4 diagnosis.
What does a negative test result mean?
A negative result suggests no RAD21 mutation detected, but clinical correlation is needed as symptoms may be due to other causes.
Can this test be used for prenatal diagnosis?
Yes, if there is a known family history, prenatal testing may be possible. Consult a genetic counselor for options.
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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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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