FOLR1 Gene Neurodegeneration Cerebral Folate Transport Deficiency NGS Genetic DNA Test
Comprehensive Introduction to FOLR1 Genetic Testing
The FOLR1 Gene Neurodegeneration Cerebral Folate Transport Deficiency NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the FOLR1 (Folate Receptor Alpha) gene, which plays a critical role in transporting folate across the blood-brain barrier. When this transport mechanism fails, it leads to cerebral folate deficiency, causing progressive neurological degeneration that can severely impact quality of life.
Early detection through this specialized genetic test is paramount for implementing timely interventions that can potentially halt or slow disease progression. The test’s importance extends beyond diagnosis, providing families with genetic counseling opportunities and informed reproductive planning.
What This Test Measures and Detects
Our comprehensive NGS Genetic DNA Test specifically analyzes:
- Complete sequencing of the FOLR1 gene for pathogenic variants
- Detection of mutations affecting folate receptor alpha function
- Identification of genetic abnormalities disrupting cerebral folate transport
- Assessment of inherited patterns through family genetic analysis
- Comprehensive variant classification according to ACMG guidelines
The test utilizes state-of-the-art Next Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic variations that could impact neurological health.
Who Should Consider FOLR1 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental regression in childhood
- Progressive neurological deterioration without clear cause
- Movement disorders including ataxia and dystonia
- Seizure disorders resistant to conventional treatments
- Cognitive decline and intellectual disability
- Autism spectrum disorder features with neurological symptoms
- Family history of similar neurological conditions
- Low cerebrospinal fluid 5-methyltetrahydrofolate levels
Significant Benefits of FOLR1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out FOLR1-related neurodegeneration
- Treatment Guidance: Informs targeted folate supplementation therapy
- Prognostic Information: Helps predict disease progression and outcomes
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates timely treatment initiation
- Peace of Mind: Provides clarity for families facing uncertain diagnoses
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Indicates presence of FOLR1 mutation; consultation with neurologist and genetic counselor recommended for treatment planning
- Negative Result: Suggests FOLR1 mutations are not the cause of symptoms; further neurological evaluation may be needed
- Variant of Uncertain Significance: Requires additional family studies and ongoing monitoring
- Carrier Status: Important information for family planning and genetic counseling
All results include detailed explanations and recommendations for next steps, ensuring you have complete understanding of your genetic profile.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | FOLR1 Gene Neurodegeneration Cerebral Folate Transport Deficiency 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 |
| Methodology | Next Generation Sequencing (NGS) Technology |
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 neurological specialists ensures you receive comprehensive care regardless of your location.
Take Action Today
Don’t let uncertainty about neurological symptoms continue. Our expert team is ready to help you understand your genetic health and provide the answers you need. With our specialized FOLR1 genetic testing, you can take control of your neurological health and make informed decisions about your care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your FOLR1 Gene Neurodegeneration Cerebral Folate Transport Deficiency NGS Genetic DNA Test. Early detection could make all the difference in managing neurological health.
Our dedicated genetic counseling team will guide you through the pre-test process, including collecting comprehensive clinical history and creating detailed family pedigree charts to ensure the most accurate analysis possible.
