SF3B4 Gene Acrofacial Dysostosis 1 Nager Type NGS Genetic DNA Test
Comprehensive Genetic Analysis for Nager Syndrome
The SF3B4 Gene Acrofacial Dysostosis 1 Nager Type NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the SF3B4 gene, which are responsible for Nager syndrome (acrofacial dysostosis type 1). This rare genetic disorder affects craniofacial development and limb formation, making accurate genetic diagnosis essential for proper medical management and family planning.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic analysis specifically targets the SF3B4 gene located on chromosome 1q21.2. This test identifies:
- Pathogenic variants and mutations in the SF3B4 gene
- Single nucleotide polymorphisms (SNPs) associated with Nager syndrome
- Insertions, deletions, and copy number variations
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting protein function
Who Should Consider SF3B4 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with:
- Characteristic facial features including down-slanting palpebral fissures, malar hypoplasia, and micrognathia
- Upper limb abnormalities such as radial defects, thumb hypoplasia, or absence
- Family history of Nager syndrome or similar craniofacial disorders
- Unexplained developmental delays with craniofacial anomalies
- Suspected genetic syndromes involving both facial and limb malformations
- Couples with family history planning pregnancy
Significant Benefits of SF3B4 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Nager syndrome with high accuracy
- Family Planning Guidance: Enables informed reproductive decisions
- Early Intervention: Facilitates timely medical and surgical management
- Genetic Counseling: Provides basis for personalized genetic counseling sessions
- Treatment Planning: Guides appropriate multidisciplinary care approach
- Prognostic Information: Helps understand potential disease progression
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic SF3B4 mutation confirming Nager syndrome diagnosis
- Negative Result: Suggests absence of detectable SF3B4 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines if individuals carry SF3B4 mutations without showing symptoms
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | SF3B4 Gene Acrofacial Dysostosis 1 Nager Type 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 Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing SF3B4 genetic testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified genetic specialists ensures you receive the highest 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 SF3B4 Gene Acrofacial Dysostosis 1 Nager Type NGS Genetic DNA Test provides the answers you need for informed medical management and family planning.
Call us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take control of your genetic health with advanced, reliable DNA analysis from America’s trusted genetics laboratory.
