PRNP Gene Fatal Familial Insomnia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Neurological Sleep Disorder
The PRNP Gene Fatal Familial Insomnia NGS Genetic DNA Test represents a breakthrough in neurological genetic testing, providing definitive diagnosis for one of medicine’s most challenging conditions. Fatal familial insomnia (FFI) is an extremely rare autosomal dominant prion disease characterized by progressive insomnia, autonomic dysfunction, and motor disturbances that ultimately lead to complete sleep loss and fatal outcomes.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis specifically targets the PRNP (prion protein) gene located on chromosome 20, focusing on the D178N mutation that is pathognomonic for fatal familial insomnia. The test examines:
- Complete PRNP gene sequencing using next-generation sequencing technology
- Detection of the specific D178N mutation associated with FFI
- Identification of codon 129 polymorphism status (methionine/methionine genotype)
- Comprehensive analysis of all coding regions and splice sites
- Detection of other PRNP mutations that may cause similar prion diseases
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive, treatment-resistant insomnia developing in adulthood
- Family history of fatal familial insomnia or unexplained neurological disorders
- Autonomic nervous system dysfunction including hypertension, tachycardia, and hyperhidrosis
- Motor disturbances such as ataxia, myoclonus, or spasticity
- Cognitive decline or memory impairment accompanying sleep disturbances
- Unexplained weight loss and endocrine abnormalities with sleep issues
- Individuals from families with known PRNP gene mutations
Significant Benefits of Early Genetic Testing
Undergoing PRNP genetic testing provides numerous critical advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and enables accurate disease identification
- Family Planning Guidance: Provides essential information for genetic counseling and reproductive decisions
- Early Intervention: Allows for symptom management and supportive care planning
- Genetic Counseling: Enables comprehensive family risk assessment and pedigree analysis
- Research Contribution: Participation in ongoing studies for rare neurological disorders
- Peace of Mind: Resolves diagnostic uncertainty for affected individuals and at-risk family members
Understanding Your Genetic Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates presence of the D178N mutation with methionine at codon 129, confirming fatal familial insomnia diagnosis
- Negative Result: No pathogenic PRNP mutations detected, significantly reducing FFI risk
- Variant of Uncertain Significance: Rare genetic changes requiring further clinical correlation
- Carrier Status: Important information for family members and genetic inheritance patterns
All positive results include detailed genetic counseling sessions to discuss implications, family testing recommendations, and management strategies.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Pre-Test Requirements and Genetic Counseling
Before testing, we require:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree chart
- Discussion of test implications, limitations, and potential outcomes
- Informed consent process explaining autosomal dominant inheritance patterns
Take Control of Your Neurological Health Today
Don’t let diagnostic uncertainty delay crucial medical decisions. Our specialized neurological genetics team is ready to provide comprehensive testing and counseling services. Early genetic testing can provide definitive answers and guide appropriate medical management.
Call or WhatsApp our genetic counseling specialists today at +1(267) 388-9828 to schedule your PRNP gene testing and comprehensive genetic counseling session.
Our experienced neurologists and genetic counselors are available to discuss your symptoms, family history, and testing options. We understand the emotional challenges of rare neurological disorders and provide compassionate, expert care throughout the testing process.
