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DCLRE1C Gene Omenn syndrome NGS Genetic Test

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DCLRE1C Gene Omenn syndrome NGS Genetic Test

Short Name: DCLRE1C Gene Omenn Syndrome Test

Also known as: Omenn's Syndrome, DCLRE1C-related Severe Combined Immunodeficiency

DCLRE1C Gene Omenn syndrome 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 and Adult🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Omenn Syndrome by detecting mutations in the DCLRE1C gene using NGS technology, aiding in early intervention and genetic counseling.

Test Code
5077
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

Provide detailed clinical history and attend a genetic counseling session to draw a pedigree chart of family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or alternative methods as specified.

Step 3

Report Delivery

Apply pressure to the puncture site; monitor for any adverse effects.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended.
2
During the Test:Sample is processed using NGS technology in a certified lab.
3
After the Test:Results are reviewed by a geneticist and reported with counseling.

About This Test

Who Should Get This Test

To diagnose Omenn Syndrome by detecting mutations in the DCLRE1C gene using NGS technology, aiding in early intervention and genetic counseling.

How to Prepare

  • Provide clinical history of the patient.
  • Attend genetic counseling session prior to testing.
  • Ensure sample is properly labeled and transported.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for DCLRE1C mutations is crucial for timely intervention in Omenn Syndrome, improving prognosis and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: Stable for 24 hours at room temperature; longer if refrigerated.
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the DCLRE1C gene. Positive results suggest a diagnosis of Omenn Syndrome, while negative results may require further clinical evaluation.
Positive for pathogenic variant: Diagnosis of Omenn Syndrome is likely; consult a geneticist for management.
Negative: No mutations detected; consider other causes if symptoms persist.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of Omenn Syndrome are present, or for family planning if a carrier is identified.

Limitations

  • May not detect all mutation types; clinical correlation required.
  • Results should be interpreted by a genetic specialist.

Risks & Considerations

  • Minimal physical risk from blood draw
  • Potential psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA quality

Compare With Similar Tests

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ComparisonDCLRE1C Gene Omenn syndrome NGS Genetic Test

Frequently Asked Questions

What is Omenn Syndrome?
Omenn Syndrome is a rare genetic disorder affecting the immune system, caused by mutations in the DCLRE1C gene, leading to severe immunodeficiency.
What causes Omenn Syndrome?
It is primarily caused by mutations in the DCLRE1C gene, which is essential for DNA repair and immune cell development.
What are the symptoms of Omenn Syndrome?
Common symptoms include severe eczema, swollen lymph nodes, recurrent infections, failure to thrive, and enlarged liver and spleen.
How is Omenn Syndrome diagnosed?
Diagnosis involves genetic testing, specifically NGS Genetic Testing to detect mutations in the DCLRE1C gene.
What is the DCLRE1C Gene Omenn Syndrome NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the DCLRE1C gene for mutations to diagnose Omenn Syndrome accurately.
What is the cost of the test?
The cost at DNA Labs India is INR 20,000, which includes test, counseling, and support services.
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.
Is the test covered by insurance?
Many insurance plans may cover genetic testing for medical purposes, but coverage varies; check with your provider.
Who should get this test?
Individuals showing symptoms of Omenn Syndrome or those with a family history of the disorder should consider testing.
What is the accuracy of the test?
NGS Genetic Testing is highly accurate and reliable for detecting mutations in the DCLRE1C gene.
What should I do if the test is positive?
Consult a geneticist or immunologist for further management, treatment options, and genetic counseling.
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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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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