POLE Gene FILS Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Developmental Disorders
The POLE Gene FILS Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the POLE gene, which are responsible for Facial Dysmorphism, Intellectual Disability, and Limb Abnormalities Syndrome (FILS). This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate and reliable results for individuals and families affected by this complex developmental disorder.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the POLE gene, which encodes the catalytic subunit of DNA polymerase epsilon. The test detects:
- Pathogenic variants and mutations in the POLE gene
- Single nucleotide variants (SNVs) associated with FILS syndrome
- Small insertions and deletions affecting gene function
- Genetic changes that disrupt normal DNA replication and repair mechanisms
The NGS technology employed in this test provides comprehensive coverage of the entire POLE gene, ensuring high sensitivity and specificity in mutation detection.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with the following symptoms and clinical features:
- Children with developmental delays and intellectual disability
- Individuals with distinctive facial dysmorphism including prominent forehead, deep-set eyes, and abnormal ear placement
- Patients with limb abnormalities such as syndactyly, brachydactyly, or other skeletal anomalies
- Families with a history of similar developmental disorders
- Individuals with growth retardation and microcephaly
- Patients with multiple congenital anomalies affecting different body systems
Clinical Benefits of Genetic Testing
Undergoing the POLE Gene FILS Syndrome NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of FILS syndrome
- Personalized Treatment Planning: Enables targeted medical management and intervention strategies
- Family Planning Guidance: Offers valuable information for reproductive decision-making
- Early Intervention: Facilitates timely implementation of developmental therapies
- Genetic Counseling: Supports families in understanding inheritance patterns and recurrence risks
- Research Contribution: Helps advance scientific understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and medical geneticists. The report will include:
- Detailed explanation of identified genetic variants
- Clinical significance of detected mutations
- Inheritance pattern information
- Recommendations for medical follow-up and management
- Family testing considerations
- Access to genetic counseling services for result interpretation
Positive results confirming POLE gene mutations provide definitive diagnosis, while negative results may help exclude FILS syndrome and guide further diagnostic evaluation.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | POLE Gene FILS 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) Technology |
| Specialty | Pediatric Genetics |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history and symptom documentation
- Participation in a genetic counseling session
- Development of a detailed pedigree chart documenting family members affected by similar conditions
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly offer the POLE Gene FILS Syndrome NGS Genetic DNA Test 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 nationwide network ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
If you or your loved one is experiencing symptoms suggestive of FILS syndrome or related developmental disorders, don’t wait to seek genetic answers. Our comprehensive POLE Gene NGS test provides the clarity needed for proper diagnosis and management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to assist you with the testing process and answer any questions you may have about POLE gene testing and FILS syndrome.
Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Take control of your genetic health journey with our advanced NGS testing services.
