FGFR1 Gene Hartsfield Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Craniofacial Abnormalities
The FGFR1 Gene Hartsfield Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with Hartsfield syndrome, a rare congenital disorder characterized by complex craniofacial abnormalities and limb defects. This advanced genetic analysis utilizes Next Generation Sequencing technology to provide comprehensive insights into FGFR1 gene variations that can significantly impact patient care and family planning decisions.
What Does This Test Measure?
This specialized genetic test specifically targets the FGFR1 (Fibroblast Growth Factor Receptor 1) gene, which plays a critical role in embryonic development, particularly in craniofacial formation and limb patterning. The test employs sophisticated NGS technology to:
- Identify pathogenic mutations in the FGFR1 gene
- Detect both inherited and de novo genetic variations
- Analyze the complete coding regions of the FGFR1 gene
- Provide comprehensive variant interpretation and classification
Who Should Consider This Test?
This genetic test is particularly important for individuals and families experiencing:
- Newborns or children with craniofacial abnormalities including cleft lip/palate
- Individuals with holoprosencephaly spectrum disorders
- Patients presenting with limb defects such as ectrodactyly
- Families with history of similar congenital abnormalities
- Couples with previous affected pregnancies
- Individuals with developmental delays and craniofacial features
Clinical Benefits of FGFR1 Genetic Testing
Undergoing FGFR1 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Hartsfield syndrome with precision
- Treatment Guidance: Informs appropriate medical and surgical interventions
- Genetic Counseling: Provides essential information for family planning
- Prognostic Insights: Helps predict potential complications and outcomes
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates presence of pathogenic FGFR1 mutation, confirming Hartsfield syndrome diagnosis
- Negative Result: Suggests absence of detectable FGFR1 mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | FGFR1 Gene Hartsfield Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Detailed pedigree chart of family members affected by similar conditions
- Informed consent for genetic testing
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our FGFR1 Gene Hartsfield Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
