NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation NGS Genetic DNA Test
Understanding NHEJ1 Gene Disorders
The NHEJ1 gene plays a critical role in DNA repair mechanisms, specifically in the non-homologous end joining pathway that fixes double-strand DNA breaks. Mutations in this gene lead to a rare autosomal recessive disorder characterized by severe combined immunodeficiency (SCID), microcephaly, growth retardation, and heightened sensitivity to ionizing radiation. This comprehensive genetic test provides definitive diagnosis for individuals suspected of having this complex condition.
What This Test Detects
Our advanced Next-Generation Sequencing (NGS) technology identifies pathogenic variants in the NHEJ1 gene, including:
- Point mutations and small insertions/deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene function
- Copy number variations impacting gene dosage
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Recurrent, severe infections beginning in infancy
- Microcephaly (abnormally small head circumference)
- Significant growth retardation and failure to thrive
- Increased sensitivity to radiation exposure
- Family history of immunodeficiency disorders
- Unexplained developmental delays
- Abnormal immune cell counts and function
Clinical Benefits of Testing
Early and accurate diagnosis through NHEJ1 gene testing provides numerous clinical advantages:
- Precise Diagnosis: Confirms the specific genetic cause of immunodeficiency
- Treatment Guidance: Informs appropriate therapeutic interventions including bone marrow transplantation
- Family Planning: Enables genetic counseling for at-risk family members
- Prognostic Information: Helps predict disease progression and complications
- Preventive Care: Guides radiation avoidance and infection prevention strategies
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Identifies pathogenic NHEJ1 mutations confirming diagnosis
- Negative Result: No disease-causing variants detected in NHEJ1 gene
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Family pedigree analysis to identify inheritance patterns
- Discussion of potential outcomes and implications
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure accurate and reliable results for patients nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment planning. Our experienced genetic counselors and medical specialists are ready to assist you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NHEJ1 genetic test or to speak with our genetic counseling team. Early diagnosis can make a significant difference in treatment outcomes and quality of life.
