FXN Gene Friedreich Ataxia NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The FXN Gene Friedreich Ataxia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying one of the most common inherited ataxias affecting the nervous system. Friedreich ataxia is an autosomal recessive disorder characterized by progressive damage to the nervous system, leading to movement difficulties, sensory loss, and potential cardiac complications. Our advanced genetic testing provides definitive answers for patients and families affected by this debilitating condition.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the FXN (frataxin) gene located on chromosome 9, utilizing Next Generation Sequencing technology to identify:
- GAA trinucleotide repeat expansions in the first intron of the FXN gene
- Point mutations and small deletions/insertions affecting frataxin protein production
- Compound heterozygous mutations that may cause atypical presentations
- Genetic variations that impact disease severity and progression
The test provides precise molecular characterization of the genetic abnormalities responsible for Friedreich ataxia, enabling accurate diagnosis and personalized management strategies.
Who Should Consider This Genetic Test?
This specialized neurological genetic test is recommended for individuals presenting with:
- Progressive gait ataxia and coordination difficulties beginning in childhood or adolescence
- Muscle weakness and loss of sensation in arms and legs
- Speech impairment (dysarthria) and swallowing difficulties
- Vision and hearing abnormalities
- Cardiac symptoms including hypertrophic cardiomyopathy
- Diabetes mellitus or glucose intolerance
- Family history of Friedreich ataxia or unexplained neurological disorders
- Suspected inherited ataxia with unknown genetic cause
Significant Benefits of Early Genetic Testing
Undergoing the FXN Gene Friedreich Ataxia NGS Genetic DNA Test offers numerous advantages:
- Definitive Diagnosis: Provides conclusive genetic confirmation of Friedreich ataxia, eliminating diagnostic uncertainty
- Early Intervention: Enables proactive management of symptoms and complications before significant neurological damage occurs
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Personalized Care: Guides targeted treatment approaches and monitoring for associated conditions
- Clinical Trial Eligibility: May qualify patients for emerging therapies and research studies
- Psychological Relief: Reduces anxiety by providing clear answers about symptoms and prognosis
Understanding Your Test Results
Our comprehensive genetic counseling services help patients interpret their FXN gene test results:
- Positive Result: Detection of biallelic pathogenic variants confirms Friedreich ataxia diagnosis and enables appropriate medical management
- Negative Result: Absence of FXN gene mutations suggests alternative diagnoses should be explored
- Carrier Status: Identification of a single mutation indicates carrier status with implications for family members
- Variant of Uncertain Significance: Rare genetic changes requiring additional family studies for interpretation
Our genetic specialists provide detailed explanations of results, discuss inheritance patterns, and outline next steps for medical care and family screening.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| FXN Gene Friedreich Ataxia NGS Genetic DNA Test – Discount Price | $500 |
| FXN Gene Friedreich Ataxia NGS Genetic DNA Test – Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our FXN Gene Friedreich Ataxia NGS Genetic DNA Test provides the clarity needed to make informed healthcare decisions. With our discounted price of $500 and comprehensive genetic counseling services, you can access world-class neurological genetic testing without financial burden.
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 guide you through every step of the testing process and help you understand your genetic health.
