SH3PXD2B Gene Frank-Ter Haar Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The SH3PXD2B Gene Frank-Ter Haar Syndrome NGS Genetic DNA Test represents a significant advancement in molecular diagnostics for rare genetic conditions. This specialized test employs state-of-the-art Next-Generation Sequencing technology to analyze the SH3PXD2B gene, which plays a critical role in cellular signaling and development. Frank-Ter Haar syndrome is an extremely rare autosomal recessive disorder characterized by multiple congenital anomalies affecting skeletal, dermatological, and immunological systems.
What This Test Measures and Detects
Our advanced NGS genetic test specifically targets the SH3PXD2B gene to identify pathogenic mutations responsible for Frank-Ter Haar syndrome. The test comprehensively analyzes:
- Point mutations, insertions, and deletions in the SH3PXD2B gene
- Copy number variations affecting gene function
- Pathogenic variants disrupting protein structure and function
- Autosomal recessive inheritance patterns
- Carrier status identification in asymptomatic individuals
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with clinical features suggestive of Frank-Ter Haar syndrome, including:
- Infants and children with craniofacial abnormalities including prominent forehead, hypertelorism, and brachycephaly
- Individuals with skeletal anomalies such as short stature, kyphoscoliosis, and joint contractures
- Patients exhibiting cardiac defects including congenital heart disease
- Those with developmental delays and intellectual disability
- Individuals with characteristic dermatological findings
- Family members of confirmed Frank-Ter Haar syndrome patients
- Couples with family history planning pregnancy
Clinical Benefits of Genetic Testing
Undergoing the SH3PXD2B genetic test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Frank-Ter Haar syndrome with high accuracy
- Personalized Treatment: Enables targeted medical management and surveillance
- Family Planning: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates timely implementation of supportive therapies
- Genetic Counseling: Supports informed family discussions about inheritance risks
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
- Positive Result: Identifies pathogenic mutations confirming Frank-Ter Haar syndrome diagnosis, requiring specialized multidisciplinary care
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further investigation and family studies
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States with convenient 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 medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our SH3PXD2B Gene Frank-Ter Haar Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical management and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class diagnostic expertise.
Call us today at +1(267) 388-9828 to schedule your genetic testing appointment or speak with our genetic counseling team. Take control of your genetic health with confidence and clarity.
