ADA Gene Severe Combined Immunodeficiency Due to ADA Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Immune System Disorders
The ADA Gene Severe Combined Immunodeficiency Due to ADA Deficiency NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for immune system disorders. This advanced genetic screening utilizes next-generation sequencing (NGS) technology to identify mutations in the adenosine deaminase (ADA) gene, which plays a critical role in immune system development and function. Early detection through this precise genetic analysis can significantly impact treatment outcomes and quality of life for affected individuals.
What This Test Measures and Detects
This specialized genetic test specifically targets the ADA gene located on chromosome 20, examining it for pathogenic variants that cause adenosine deaminase deficiency. The test identifies:
- Point mutations, deletions, and insertions in the ADA gene
- Specific genetic variations affecting enzyme production
- Inheritance patterns of ADA deficiency
- Risk assessment for severe combined immunodeficiency development
- Carrier status identification in family members
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Unexplained recurrent severe infections in infancy or childhood
- Family history of severe combined immunodeficiency
- Unexplained failure to thrive in infants
- Persistent diarrhea and respiratory infections
- Autoimmune manifestations without clear cause
- Planning pregnancy with family history of immune disorders
- Unexplained lymphopenia or abnormal lymphocyte counts
Significant Benefits of Genetic Testing
Undergoing the ADA Gene Severe Combined Immunodeficiency test provides numerous advantages:
- Early diagnosis enabling prompt therapeutic intervention
- Accurate genetic counseling for family planning decisions
- Personalized treatment strategies based on genetic findings
- Improved prognosis through timely enzyme replacement therapy
- Potential for hematopoietic stem cell transplantation planning
- Reduced diagnostic uncertainty and medical costs
- Comprehensive understanding of disease inheritance patterns
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and immunologists:
- Positive Result: Indicates presence of pathogenic ADA gene mutations, confirming diagnosis of ADA-SCID
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed interpretation and recommendations for next steps, including consultation with immunology specialists and genetic counselors.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ADA Gene Severe Combined Immunodeficiency Due to ADA Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
- Insurance pre-authorization if applicable
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Action Today
Don’t let uncertainty about immune system disorders affect your family’s health and future. Our comprehensive ADA Gene Severe Combined Immunodeficiency testing provides the clarity needed for informed medical decisions. Schedule your appointment today by calling our dedicated genetics team at +1(267) 388-9828 or book your test online through our secure patient portal. Early genetic diagnosis can make a life-changing difference in managing severe combined immunodeficiency disorders.
