SETBP1 Gene Schinzel-Giedion Midface Retraction Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Developmental Disorders
The SETBP1 Gene Schinzel-Giedion Midface Retraction Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic conditions. This advanced testing methodology utilizes next-generation sequencing (NGS) technology to precisely identify mutations in the SETBP1 gene, which are responsible for Schinzel-Giedion syndrome – a severe congenital disorder affecting multiple body systems.
What Does This Test Measure and Detect?
This specialized genetic test focuses on comprehensive analysis of the SETBP1 (SET Binding Protein 1) gene located on chromosome 18q12.3. The test specifically detects:
- Pathogenic variants and mutations in the SETBP1 gene
- De novo mutations typically associated with Schinzel-Giedion syndrome
- Missense mutations affecting the SKI homologous region
- Various genetic alterations including point mutations, insertions, and deletions
The test employs state-of-the-art NGS technology that provides complete coverage of the SETBP1 gene coding regions, splice sites, and regulatory elements, ensuring maximum detection sensitivity for this rare genetic condition.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following clinical features:
- Distinctive Facial Features: Midface retraction, prominent forehead, hypertelorism, and short upturned nose
- Neurological Symptoms: Severe developmental delay, seizures, and hypotonia
- Skeletal Abnormalities: Multiple congenital anomalies including hydronephrosis and cardiac defects
- Growth Concerns: Failure to thrive and feeding difficulties in infancy
- Family History: Suspected genetic inheritance patterns or previous undiagnosed cases
Clinical Benefits of SETBP1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Schinzel-Giedion syndrome with molecular precision
- Personalized Treatment Planning: Enables targeted medical management and intervention strategies
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps anticipate potential complications and disease progression
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Positive Result: Indicates the presence of a pathogenic SETBP1 mutation, confirming Schinzel-Giedion syndrome diagnosis
- Negative Result: Suggests absence of detectable SETBP1 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Provides information about genetic risk for future generations
Our genetic specialists provide detailed explanations and guidance for all result scenarios, ensuring you fully understand the implications for medical management and family planning.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SETBP1 Gene Schinzel-Giedion Midface Retraction Syndrome 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
To ensure optimal testing accuracy, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Detailed documentation of clinical features and symptoms
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 other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions delay proper diagnosis and treatment. Our SETBP1 genetic test provides the definitive answers you need for informed medical decisions and comprehensive care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated genetic specialists are ready to guide you through the testing process and help you understand your results with compassion and expertise.
Early genetic diagnosis through advanced NGS technology can make a significant difference in managing Schinzel-Giedion syndrome and planning appropriate medical interventions. Take control of your genetic health journey with our comprehensive testing services.
