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NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic Test

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NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic Test

Short Name: CdLS Type 1 NGS Test

Also known as: CdLS Type 1 Genetic Test, NIPBL Gene Test, Cornelia de Lange Syndrome NGS Test

NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next Generation Sequencing 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 confirm the diagnosis of Cornelia de Lange Syndrome Type 1 by detecting pathogenic mutations in the NIPBL gene using Next Generation Sequencing, facilitating accurate management and genetic counseling.

Test Code
4867
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, Next Generation Sequencing
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; results available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Report generation and consultation for result interpretation.

About This Test

Who Should Get This Test

To confirm the diagnosis of Cornelia de Lange Syndrome Type 1 by detecting pathogenic mutations in the NIPBL gene using Next Generation Sequencing, facilitating accurate management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes
  • Follow aseptic techniques

Doctor's Notes

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

"This NGS test is essential for confirming CdLS diagnosis, enabling early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the NIPBL gene associated with Cornelia de Lange Syndrome Type 1.
Positive: Pathogenic variant detected, confirming CdLS Type 1 diagnosis
Negative: No pathogenic variants detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider if symptoms of CdLS are present, for result interpretation, or for genetic counseling.

Limitations

  • ⚠May not detect all types of mutations in NIPBL gene
  • ⚠Variants of uncertain significance may be identified
  • ⚠Does not rule out other genetic causes of similar symptoms

Risks & Considerations

  • ●Psychological impact of results
  • ●Potential insurance implications
  • ●Minimal physical risk from blood draw

Interfering Factors

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

Compare With Similar Tests

TestNIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic TestSMC1A Gene CdLS Type 2 TestRAD21 Gene CdLS Type 3 TestHDAC8 Gene CdLS Type 4 TestCdLS Gene Panel Test
ComparisonNIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Cornelia de Lange Syndrome?
Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by physical, cognitive, and behavioral abnormalities, often caused by mutations in genes like NIPBL.
What is the NIPBL gene?
The NIPBL gene encodes a protein involved in gene regulation during development; mutations in this gene are linked to CdLS Type 1.
How is CdLS diagnosed?
Diagnosis involves clinical evaluation by a geneticist and genetic testing, such as NGS, to confirm mutations in associated genes.
What does the NGS Genetic Test involve?
The test uses Next Generation Sequencing to analyze the NIPBL gene for mutations from a blood or DNA sample.
What is the cost of the test?
The NIPBL Gene CdLS Type 1 NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings 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?
Symptoms include growth retardation, microcephaly, limb abnormalities, developmental delays, intellectual disability, and behavioral issues.
Can CdLS be treated?
There is no cure, but early diagnosis allows for management of symptoms through therapies and supportive care.
Is genetic testing necessary for CdLS?
Genetic testing confirms diagnosis, aids in genetic counseling, and helps guide management strategies.
What are the risks of genetic testing?
Risks include psychological impact, potential insurance implications, and minimal physical risk from blood draw.
How can I prepare for the test?
Provide clinical history, undergo genetic counseling, and follow sample collection instructions provided by the lab.
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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