NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic Test
Short Name: NHEJ1 Gene SCID NGS Test
Also known as: NHEJ1 Gene SCID, Severe Combined Immunodeficiency with Microcephaly
NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose severe combined immunodeficiency caused by mutations in the NHEJ1 gene, providing information for clinical management and genetic counseling.
- Test Code
- 2473
- 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)
Sample Collection
Provide detailed clinical history and family pedigree during genetic counseling.
Method: Blood Draw
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to stop bleeding and avoid strenuous activity.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose severe combined immunodeficiency caused by mutations in the NHEJ1 gene, providing information for clinical management and genetic counseling.
How to Prepare
- Provide clinical history of patient
- Undergo genetic counseling session
- Draw pedigree chart of family members
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing NHEJ1-related SCID, which presents with microcephaly and growth issues. Early detection allows for better management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
If symptoms of SCID are present, such as frequent infections or growth issues, or if there is a family history of genetic disorders.
Limitations
- ⚠May not detect all types of mutations in the NHEJ1 gene
- ⚠Results require interpretation by a genetic specialist
Risks & Considerations
- ●Slight pain or bruising at puncture site
- ●Minimal risk of infection
Interfering Factors
- ●Sample contamination
- ●Improper sample storage
Frequently Asked Questions
What is the NHEJ1 Gene SCID NGS Genetic Test?
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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.
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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