FGF14 Gene Spinocerebellar Ataxia Type 27 Autosomal Dominant NGS Genetic DNA Test
Understanding FGF14 Gene Spinocerebellar Ataxia Type 27
Spinocerebellar ataxia type 27 (SCA27) is a rare neurological disorder characterized by progressive impairment of coordination and balance due to mutations in the FGF14 gene. This autosomal dominant condition affects the cerebellum, the brain region responsible for coordinating movement, leading to significant challenges in daily functioning and quality of life.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically analyzes the FGF14 gene for pathogenic variants associated with spinocerebellar ataxia type 27. The test examines:
- Complete FGF14 gene sequencing using Next-Generation Sequencing technology
- Detection of point mutations, insertions, and deletions
- Autosomal dominant inheritance pattern confirmation
- Pathogenic variant identification linked to cerebellar dysfunction
Who Should Consider This Test
This genetic test is recommended for individuals experiencing symptoms or with family history suggestive of spinocerebellar ataxia:
- Progressive gait instability and coordination difficulties
- Tremors, especially intention tremors that worsen with movement
- Speech difficulties (dysarthria) and swallowing problems
- Family history of cerebellar ataxia or neurological disorders
- Early-onset movement disorders in adolescence or young adulthood
- Unexplained balance problems and frequent falls
Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms SCA27 and differentiates from other ataxia types
- Proactive Management: Enables early intervention and symptom management
- Family Planning: Informs reproductive decisions and genetic counseling
- Treatment Guidance: Helps neurologists develop targeted treatment strategies
- Clinical Trial Eligibility: Opens opportunities for emerging therapies
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret results:
- Positive Result: Indicates presence of FGF14 mutation; confirms SCA27 diagnosis
- Negative Result: No FGF14 mutation detected; other causes should be investigated
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and genetic counseling
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | FGF14 Gene Spinocerebellar Ataxia Type 27 Autosomal Dominant 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We have diagnostic centers across major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our certified genetic counselors and neurologists provide comprehensive support throughout the testing process.
Book Your Test Today
Take the first step toward understanding your neurological health. Our team of genetic specialists and neurologists is ready to assist you with comprehensive testing and counseling services.
Call or WhatsApp: +1(267) 388-9828 to schedule your appointment or discuss your testing options with our genetic counseling team.
