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 and V(D)J recombination, which is essential for proper immune system development. Mutations in this gene lead to a rare autosomal recessive disorder characterized by severe combined immunodeficiency (SCID), microcephaly, growth retardation, and increased sensitivity to ionizing radiation. This comprehensive genetic test provides definitive diagnosis for individuals suspected of having this complex condition.
What Does This Test Detect?
Our advanced Next-Generation Sequencing (NGS) technology analyzes the entire NHEJ1 gene to identify:
- Pathogenic mutations causing severe combined immunodeficiency
- Genetic variants associated with microcephaly development
- Mutations linked to growth retardation patterns
- Genetic markers for radiation sensitivity
- Inheritance patterns for family planning
Who Should Consider This Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Recurrent severe infections from infancy
- Failure to thrive and growth delays
- Microcephaly (abnormally small head circumference)
- Family history of immunodeficiency disorders
- Unexpected reactions to medical radiation exposure
- Developmental delays and neurological abnormalities
- Consanguineous family backgrounds
Benefits of NHEJ1 Genetic Testing
Early and accurate diagnosis through genetic testing provides numerous advantages:
- Precise Diagnosis: Confirms the specific genetic cause of symptoms
- Personalized Treatment: Guides appropriate immune therapy and management
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates timely treatment to prevent complications
- Radiation Safety: Identifies individuals requiring special radiation precautions
- Genetic Counseling: Provides comprehensive family risk assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Confirms NHEJ1 gene mutation and establishes diagnosis
- Negative Result: Rules out NHEJ1-related disorder, suggesting alternative causes
- Variant of Uncertain Significance: Requires additional family studies
- Carrier Status: Identifies individuals with single mutation copies
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Feature | 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) Technology |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session
- Family pedigree chart development
- Discussion of testing implications and limitations
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients throughout the country.
Book Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our genetic specialists are ready to assist you with comprehensive testing and counseling services. Contact us now to schedule your appointment and begin your journey to better health understanding.
Call or WhatsApp: +1(267) 388-9828
Our team is available to answer your questions, discuss testing options, and help you schedule your genetic evaluation. Don’t wait – early diagnosis can make a significant difference in treatment outcomes and quality of life.
