JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type NGS Genetic DNA Test
Comprehensive Introduction to JAK3 Gene SCID Testing
The JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying severe combined immunodeficiency (SCID) caused by mutations in the JAK3 gene. This specialized test is crucial for early detection of life-threatening immune disorders that typically manifest in infancy and early childhood. The JAK3 gene plays a vital role in cytokine signaling pathways essential for proper immune system development and function.
Using advanced next-generation sequencing (NGS) technology, this test provides comprehensive analysis of the entire JAK3 gene, enabling precise identification of pathogenic variants responsible for autosomal recessive SCID with T-cell negative, B-cell positive characteristics. Early diagnosis through this testing can significantly improve patient outcomes by facilitating timely therapeutic interventions, including hematopoietic stem cell transplantation.
What This Test Measures and Detects
The JAK3 Gene SCID NGS Genetic DNA Test specifically targets:
- Complete sequencing of the JAK3 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of autosomal recessive inheritance patterns
- Analysis of T-cell negative, B-cell positive SCID characteristics
- Comprehensive variant classification and pathogenicity assessment
This test utilizes state-of-the-art NGS technology to provide high-resolution genetic analysis, ensuring accurate detection of even rare mutations that might be missed by conventional testing methods. The comprehensive approach allows for complete characterization of the genetic basis underlying SCID disorders.
Who Should Consider This Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Recurrent, severe, or unusual infections in infancy or early childhood
- Failure to thrive or poor weight gain despite adequate nutrition
- Persistent diarrhea or gastrointestinal issues
- Chronic respiratory infections or pneumonia
- Family history of SCID or early childhood mortality from infections
- Abnormal lymphocyte counts or immune function tests
- Suspected primary immunodeficiency disorders
At-Risk Populations
- Newborns with suspected immune deficiencies
- Children with recurrent opportunistic infections
- Individuals with family history of SCID or immune disorders
- Patients undergoing evaluation for hematopoietic stem cell transplantation
- Couples with previous child affected by SCID considering future pregnancies
Benefits of JAK3 Gene SCID Testing
Undergoing the JAK3 Gene SCID NGS Genetic DNA Test offers numerous critical advantages:
- Early Diagnosis: Enables prompt identification of SCID before life-threatening complications develop
- Treatment Planning: Guides appropriate therapeutic decisions, including timing of stem cell transplantation
- Family Counseling: Provides essential information for genetic counseling and family planning
- Prognostic Information: Helps predict disease severity and potential treatment outcomes
- Preventive Care: Allows for implementation of infection prevention strategies
- Research Contribution: Contributes to ongoing understanding of SCID genetics and treatment approaches
Understanding Your Test Results
Interpretation Guidelines
Test results are typically categorized as follows:
- Positive Result: Identifies pathogenic mutations in the JAK3 gene confirming SCID diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene without disease manifestation
Clinical Implications
A positive result confirms the diagnosis of JAK3-deficient SCID and necessitates immediate referral to a specialized immunology center. Treatment typically involves hematopoietic stem cell transplantation, which offers the best chance for long-term survival and immune reconstitution. Genetic counseling is strongly recommended for all positive cases to discuss inheritance patterns and family implications.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type NGS Genetic DNA Test – Discount Price | $500 |
| JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic branches conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures accessible testing services for patients throughout the country.
Take Action Today
Don’t delay critical diagnosis for suspected SCID conditions. Early detection through JAK3 gene testing can be life-saving. Our experienced genetic counselors and hematology specialists are ready to assist you with comprehensive testing and personalized care.
Book your JAK3 Gene SCID NGS Genetic DNA Test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward accurate diagnosis and effective treatment planning.
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Specialty: Hematology and Genetics
- Testing Method: Advanced Next-Generation Sequencing (NGS) Technology
