AK2 Gene Reticular Dysgenesis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Combined Immunodeficiency
The AK2 Gene Reticular Dysgenesis NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for severe immune disorders. This advanced next-generation sequencing test specifically targets mutations in the AK2 (Adenylate Kinase 2) gene, which plays a critical role in cellular energy metabolism and immune system development. Reticular dysgenesis is an extremely rare and life-threatening form of severe combined immunodeficiency (SCID) that affects multiple body systems, making early and accurate diagnosis essential for patient survival and quality of life.
What Does This Test Measure?
This comprehensive genetic test utilizes cutting-edge NGS technology to analyze the entire coding region of the AK2 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations
- Regulatory region abnormalities
The test provides complete sequencing coverage of all exons and flanking intronic regions, ensuring comprehensive mutation detection for accurate diagnosis of reticular dysgenesis.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Severe recurrent infections in infancy
- Failure to thrive and developmental delays
- Hematological abnormalities including leukopenia
- Family history of immune deficiency disorders
- Unexplained sensorineural hearing loss
- Suspected severe combined immunodeficiency (SCID)
- Consanguineous parentage with immune disorder concerns
Clinical Benefits of AK2 Genetic Testing
Early diagnosis through AK2 gene testing provides numerous clinical advantages:
- Early Intervention: Enables prompt treatment before irreversible damage occurs
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps determine appropriate therapeutic approaches including hematopoietic stem cell transplantation
- Prognostic Information: Offers insights into disease severity and expected clinical course
- Carrier Detection: Identifies asymptomatic carriers within families
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and clinical geneticists:
- Positive Result: Indicates the presence of pathogenic mutations in the AK2 gene, confirming diagnosis of reticular dysgenesis
- Negative Result: Suggests no detectable mutations in the AK2 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood
Pre-test Requirements: Clinical history and genetic counseling session
Nationwide Testing Availability
We have convenient testing locations 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 state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Early detection of reticular dysgenesis can be life-saving. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your AK2 Gene Reticular Dysgenesis NGS Genetic DNA Test. Take the first step toward understanding your genetic health and making informed medical decisions for yourself and your family.
