EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Craniofrontonasal Syndrome
The EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the EFNB1 gene, which is responsible for Craniofrontonasal Syndrome (CFNS). This rare X-linked genetic disorder primarily affects craniofacial development and requires precise genetic confirmation for accurate diagnosis and management.
What This Test Measures and Detects
Our advanced Next-Generation Sequencing (NGS) technology comprehensively analyzes the EFNB1 gene to identify pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the EFNB1 gene
- Missense, nonsense, and frameshift mutations
- Splice site alterations affecting protein function
The EFNB1 gene encodes ephrin-B1, a critical protein involved in cell signaling during embryonic development, particularly in neural crest cell migration and craniofacial patterning.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following clinical features:
- Craniosynostosis (premature fusion of skull sutures)
- Hypertelorism (widely spaced eyes)
- Frontonasal dysplasia with bifid nasal tip
- Cleft lip and/or palate abnormalities
- Developmental delays and intellectual disability
- Distinctive facial features including downslanting palpebral fissures
- Family history of craniofacial abnormalities
- Unexplained syndromic features in pediatric patients
Clinical Benefits of EFNB1 Genetic Testing
Undergoing EFNB1 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Craniofrontonasal Syndrome with molecular precision
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Guides appropriate surgical interventions and management strategies
- Early Intervention: Facilitates timely multidisciplinary care coordination
- Genetic Counseling: Provides risk assessment for family members and future pregnancies
- Differential Diagnosis: Helps distinguish CFNS from other craniofacial syndromes
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies a pathogenic EFNB1 mutation confirming Craniofrontonasal Syndrome diagnosis
- Negative Result: No EFNB1 mutation detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines inheritance patterns and family member risks
All results are accompanied by detailed genetic counseling recommendations and clinical management guidance from our expert team.
Test Pricing and Sample Requirements
| Test Name | Regular Price | Discount Price | Turnaround Time |
|---|---|---|---|
| EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic DNA Test | $700 USD | $500 USD | 3-4 Weeks |
Sample Collection Options
- Blood sample (standard venipuncture)
- Extracted DNA specimen
- One drop of blood on FTA card
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
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, and many other cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about craniofacial abnormalities delay proper diagnosis and treatment. Our EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate genetic specialists are ready to guide you through the testing process and help you understand your results with clarity and confidence.
Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Trust our expertise in pediatric genetics and dysmorphology to provide the comprehensive testing and support your family deserves.
