FOXG1 Gene Rett Syndrome Congenital Variant NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The FOXG1 Gene Rett Syndrome Congenital Variant NGS Genetic DNA Test represents a significant advancement in pediatric genetic diagnostics, specifically designed to identify mutations in the FOXG1 gene that cause congenital variant Rett syndrome. This severe neurodevelopmental disorder affects brain development and function, leading to profound developmental challenges in affected children. Our state-of-the-art testing methodology provides families and healthcare providers with crucial diagnostic information that can guide treatment decisions and improve patient outcomes.
What Does This Test Measure and Detect?
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the FOXG1 gene for pathogenic variants. The test specifically detects:
- Point mutations, deletions, and duplications in the FOXG1 gene
- Pathogenic variants associated with congenital Rett syndrome
- Genetic alterations affecting brain development and function
- Inherited or de novo mutations causing neurodevelopmental disorders
The FOXG1 gene plays a critical role in brain development, particularly in the formation of the cerebral cortex. Mutations in this gene disrupt normal neuronal development and connectivity, leading to the characteristic features of congenital variant Rett syndrome.
Who Should Consider This Genetic Test?
This test is recommended for infants and children presenting with the following symptoms or clinical features:
- Severe developmental delay from early infancy
- Microcephaly (abnormally small head size)
- Movement disorders including dystonia and chorea
- Intractable seizures or epilepsy
- Absent or severely impaired speech development
- Abnormal hand movements and stereotypic behaviors
- Feeding difficulties and gastrointestinal issues
- Sleep disturbances and breathing irregularities
- Family history of similar neurodevelopmental conditions
Key Benefits of FOXG1 Genetic Testing
Undergoing FOXG1 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive molecular diagnosis, ending diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates early implementation of developmental therapies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Opportunities: Connects families with clinical trials and research studies
Understanding Your Test Results
Our comprehensive genetic counseling support helps you understand your test results:
- Positive Result: Indicates a pathogenic FOXG1 mutation is present, confirming diagnosis of congenital variant Rett syndrome
- Negative Result: Suggests FOXG1 mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if family members carry FOXG1 mutations without showing symptoms
All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | FOXG1 Gene Rett Syndrome Congenital Variant 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 |
Pre-Test Requirements and Preparation
Before scheduling your FOXG1 genetic test, please ensure:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Review of previous genetic testing and medical evaluations
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Diagnosis
If you suspect FOXG1-related disorders in your child or family member, don’t delay in seeking genetic testing. Early diagnosis can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your FOXG1 genetic test consultation and take the first step toward definitive diagnosis and personalized care.
