IL7R Gene Severe Combined Immunodeficiency T-Cell Negative B-Cell/Natural Killer Cell-Positive Type NGS Genetic DNA Test
Understanding IL7R Gene SCID and Its Clinical Importance
Severe Combined Immunodeficiency (SCID) represents a group of rare, life-threatening genetic disorders characterized by profound defects in both T-cell and B-cell immune function. The IL7R gene mutation specifically causes T-cell negative B-cell/natural killer cell-positive SCID, a distinct subtype where T-cells are severely depleted while B-cells and natural killer cells remain present but functionally impaired. This condition disrupts the body’s ability to fight infections, making affected individuals extremely vulnerable to common pathogens.
The IL7R gene encodes the interleukin-7 receptor alpha chain, a critical component in T-cell development and survival. Mutations in this gene prevent proper signaling through the IL-7 pathway, leading to arrested T-cell maturation in the thymus. Early diagnosis through genetic testing is essential for timely intervention, including hematopoietic stem cell transplantation, which can be life-saving when performed before irreversible organ damage occurs.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based IL7R gene test utilizes cutting-edge next-generation sequencing technology to:
- Sequence the entire IL7R gene coding regions and splice sites
- Detect point mutations, small insertions, and deletions
- Identify known pathogenic variants associated with SCID
- Analyze novel variants of uncertain significance
- Provide comprehensive coverage of all exons and flanking intronic regions
The test specifically targets the IL7R gene located on chromosome 5p13, which consists of 8 exons spanning approximately 17 kilobases. Our advanced bioinformatics pipeline ensures high sensitivity and specificity in variant detection, with confirmation of significant findings through Sanger sequencing when necessary.
Who Should Consider IL7R Gene SCID Testing
This genetic test is recommended for individuals presenting with:
- Infants with recurrent, severe, or opportunistic infections
- Failure to thrive and persistent diarrhea in early infancy
- Family history of SCID or unexplained infant deaths
- Abnormal lymphocyte counts with low T-cell numbers
- Positive newborn screening for SCID (TREC assay)
- Consanguineous parentage with suspected autosomal recessive inheritance
- Unexplained chronic skin rashes or candidiasis
Clinical Benefits of Early Genetic Diagnosis
Timely genetic testing for IL7R SCID provides numerous critical benefits:
- Early Intervention: Enables prompt treatment before life-threatening infections develop
- Family Planning: Provides accurate recurrence risk information for future pregnancies
- Treatment Guidance: Informs decisions regarding hematopoietic stem cell transplantation
- Carrier Detection: Identifies asymptomatic carriers within the family
- Prenatal Diagnosis: Allows for early detection in subsequent pregnancies
- Avoidance of Live Vaccines: Prevents vaccine-associated complications in affected infants
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your IL7R gene analysis:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the IL7R gene consistent with T-cell negative B-cell/natural killer cell-positive SCID. This confirms the genetic diagnosis and enables immediate referral to immunology specialists for treatment planning. Genetic counseling is provided to discuss inheritance patterns and family implications.
Negative Result Interpretation
A negative result suggests that no pathogenic IL7R mutations were detected. However, this does not completely rule out SCID, as other genetic causes exist. Further testing may be recommended based on clinical presentation and family history.
Variant of Uncertain Significance (VUS)
When a genetic change of unknown clinical significance is identified, our team provides detailed information about the variant and recommends appropriate follow-up testing and clinical correlation.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | IL7R Gene Severe Combined Immunodeficiency NGS DNA Test | – |
| Discount Price | Limited time offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis | 3-4 Weeks |
| Sample Type | Multiple options available | Blood, Extracted DNA, or FTA Card |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Nationwide Testing Availability
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, and San Jose. Our network of certified genetic counselors and phlebotomists ensures accessible, professional service regardless of your location.
Take Action for Better Health Outcomes
Early genetic diagnosis of IL7R SCID can be life-saving. Don’t delay in seeking answers for persistent immune concerns. Our team of genetics specialists is ready to provide comprehensive testing, counseling, and support throughout your diagnostic journey.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate staff will guide you through the process and answer all your questions about IL7R gene testing and its implications for your family’s health.
With advanced NGS technology and expert interpretation, our IL7R Gene SCID Test provides the definitive answers you need for informed medical decisions and optimal patient care.
