DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for ICF Syndrome Type 1
The DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare immunodeficiency disorders. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the DNMT3B gene, which plays a critical role in DNA methylation and immune system regulation. ICF syndrome type 1 is a rare autosomal recessive disorder characterized by profound immunodeficiency, distinctive facial features, and chromosomal abnormalities affecting centromeric regions.
What This Advanced Genetic Test Measures
Our comprehensive NGS test specifically targets the DNMT3B gene to detect:
- Pathogenic variants and mutations in the DNMT3B gene sequence
- Single nucleotide polymorphisms (SNPs) associated with ICF syndrome
- Insertions, deletions, and frameshift mutations affecting gene function
- Regulatory region abnormalities impacting DNA methylation patterns
- Compound heterozygous mutations in autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals presenting with:
- Recurrent severe infections beginning in infancy or early childhood
- Distinctive facial features including hypertelorism, flat nasal bridge, or epicanthal folds
- Developmental delays or intellectual disability of unknown origin
- Family history of immunodeficiency disorders or consanguineous parents
- Unexplained chromosomal instability or abnormal cytogenetic findings
- Growth retardation and failure to thrive despite adequate nutrition
- Autoimmune manifestations or unusual inflammatory responses
Clinical Benefits of DNMT3B Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms ICF syndrome type 1 with molecular precision
- Personalized Treatment: Enables targeted immunotherapy and infection management
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Facilitates proactive management of immunodeficiency complications
- Disease Monitoring: Establishes baseline for tracking disease progression
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your DNMT3B test results:
- Positive Result: Identifies pathogenic mutations confirming ICF syndrome type 1 diagnosis, requiring specialized immunology care
- Negative Result: No detected mutations in DNMT3B gene, suggesting alternative diagnoses for immunodeficiency symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and family studies
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 cities. Our network of certified genetic counselors and specialized laboratories ensures consistent, high-quality testing nationwide.
Pre-Test Requirements and Preparation
To ensure optimal testing accuracy, 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
- Sample collection coordination with our certified phlebotomists
Take Control of Your Genetic Health Today
Don’t let uncertainty about immunodeficiency symptoms affect your quality of life. Our DNMT3B Gene ICF Syndrome Type 1 NGS Test provides the clarity needed for proper diagnosis and treatment planning. With a turnaround time of 3-4 weeks and multiple sample options including blood, extracted DNA, or FTA card, getting tested has never been more convenient.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your DNMT3B genetic test. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand your results.
