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 mutation test
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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
To identify pathogenic mutations in the NHEJ1 gene responsible for severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation.
- Test Code
- 2808
- 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
Genetic counseling session recommended to discuss test implications.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card.
Report Delivery
Sample sent to laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the NHEJ1 gene responsible for severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation.
How to Prepare
- Schedule genetic counseling
- Provide clinical history
- Collect blood sample
- Label sample correctly
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for NHEJ1 mutations is crucial for timely intervention in SCID cases with microcephaly and growth retardation."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
- Insufficient sample volume
- Contaminated sample
- Incorrect labeling
Understanding Your Results
If symptoms of SCID are present or if family history suggests genetic predisposition.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Frequently Asked Questions
What is the NHEJ1 Gene SCID NGS Genetic Test?
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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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