ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for ICF Syndrome Type 2
The ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders. This advanced testing methodology provides definitive identification of mutations in the ZBTB24 gene, which plays a critical role in DNA methylation and immune system regulation. ICF syndrome type 2 is a rare autosomal recessive disorder characterized by distinctive facial features, immunodeficiency, and chromosomal abnormalities affecting centromeric regions.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test specifically targets the ZBTB24 gene to identify pathogenic variants associated with Immunodeficiency-Centromeric Instability-Facial anomalies syndrome type 2. The test analyzes:
- Point mutations, deletions, and insertions in the ZBTB24 gene coding regions
- Copy number variations affecting gene function
- Splice site mutations that may disrupt normal protein production
- Compound heterozygous mutations in affected individuals
The ZBTB24 gene encodes a zinc finger and BTB domain-containing protein that functions as a transcriptional regulator essential for proper DNA methylation patterns and immune system development.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with clinical features suggestive of ICF syndrome type 2, including:
- Recurrent severe infections due to immunodeficiency
- Distinctive facial abnormalities including hypertelorism, flat nasal bridge, and epicanthal folds
- Developmental delays and intellectual disability
- Growth retardation and failure to thrive
- Family history of similar symptoms or consanguineous parents
- Unexplained chromosomal instability in laboratory testing
- Autoimmune manifestations and inflammatory conditions
Clinical Benefits of ZBTB24 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out ICF syndrome type 2 with high precision
- Personalized Treatment Planning: Enables targeted therapeutic interventions based on genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management of immunodeficiency and associated complications
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your ZBTB24 gene analysis:
- Positive Result: Identification of pathogenic mutations confirms ICF syndrome type 2 diagnosis, enabling appropriate medical management and family screening
- Negative Result: Absence of known pathogenic variants significantly reduces likelihood of ICF syndrome type 2, though other genetic conditions may need consideration
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional analysis for proper interpretation
- Carrier Status: Identification of single mutation carriers provides important information for family planning
All results are accompanied by detailed clinical correlation and recommendations from our board-certified genetic specialists.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 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 Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics, Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic testing
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, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 NGS Genetic DNA Test provides the definitive answers you need for informed medical management and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or book online through our secure patient portal. Our genetic specialists are available to answer your questions and guide you through the testing process.
Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory. Early diagnosis through advanced genetic testing can significantly improve clinical outcomes and quality of life for individuals with rare genetic disorders.
