SALL4 Gene IVIC Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for IVIC Syndrome Detection
The SALL4 Gene IVIC Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SALL4 gene, which is responsible for IVIC syndrome (Institute Venezolano de Investigaciones Científicas syndrome). This rare genetic disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive analysis of the SALL4 gene, enabling healthcare providers to make informed clinical decisions and offer appropriate genetic counseling.
What Does the SALL4 Gene IVIC Syndrome Test Measure?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to thoroughly examine the SALL4 gene for pathogenic variants associated with IVIC syndrome. The test specifically detects:
- Point mutations and small insertions/deletions in the SALL4 gene
- Pathogenic variants known to cause IVIC syndrome
- Novel mutations that may contribute to the disorder
- Genetic markers associated with autosomal dominant inheritance patterns
The SALL4 gene encodes a zinc finger transcription factor crucial for embryonic development, particularly in limb formation, ear development, and hematopoiesis. Mutations in this gene disrupt normal developmental processes, leading to the characteristic features of IVIC syndrome.
Who Should Consider SALL4 Gene Testing?
This genetic test is recommended for individuals presenting with symptoms suggestive of IVIC syndrome or those with a family history of the condition. Key indications include:
- Newborns and children with radial ray defects including thumb abnormalities
- Individuals with congenital hearing loss or auditory canal abnormalities
- Patients exhibiting craniofacial dysmorphism such as strabismus or facial asymmetry
- Those with limb malformations affecting upper extremities
- Individuals from families with known IVIC syndrome history
- Couples planning pregnancy with family history of skeletal abnormalities
Clinical Benefits of SALL4 Genetic Testing
Undergoing SALL4 gene testing provides numerous clinical advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out IVIC syndrome with high precision
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely management of associated health issues
- Genetic Counseling: Provides basis for comprehensive family genetic assessment
- Treatment Planning: Guides appropriate medical and surgical interventions
- Prognostic Information: Helps understand potential disease progression
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your SALL4 gene test results:
- Positive Result: Indicates presence of pathogenic SALL4 mutation confirming IVIC syndrome diagnosis
- Negative Result: Suggests absence of known pathogenic variants, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Important for family members and reproductive planning
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps. Our team works closely with your healthcare provider to integrate genetic findings into your overall care plan.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with IVIC syndrome features
- Review of previous genetic testing and medical evaluations
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure consistent, high-quality genetic testing with rapid turnaround times.
Book Your SALL4 Genetic Test Today
Take the first step toward genetic clarity and comprehensive care. Our expert genetic counselors and medical professionals are ready to assist you with scheduling, sample collection, and result interpretation.
Call or WhatsApp: +1(267) 388-9828 to schedule your SALL4 Gene IVIC Syndrome NGS Genetic DNA Test. Our team will guide you through the testing process and answer any questions about genetic counseling, insurance coverage, and result delivery.
Early genetic diagnosis can significantly impact treatment outcomes and family planning decisions. Don’t delay – secure your appointment today for comprehensive SALL4 genetic analysis.
