ELP1 Gene HSAN3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Sensory Neuropathy Type III
The ELP1 Gene HSAN3 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the ELP1 gene responsible for Hereditary Sensory and Autonomic Neuropathy Type III (HSAN3). This rare inherited neurological disorder affects the development and function of sensory and autonomic neurons, leading to significant health challenges throughout life. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that contribute to this complex condition.
What Does the ELP1 Gene HSAN3 Test Detect?
This sophisticated genetic test specifically targets the ELP1 gene (also known as IKBKAP), which plays a critical role in neuronal development and function. The test identifies:
- Pathogenic variants and mutations in the ELP1 gene
- Single nucleotide polymorphisms associated with HSAN3
- Deletion and insertion mutations affecting gene function
- Splice site mutations that disrupt normal protein production
- Compound heterozygous mutations in affected individuals
Who Should Consider ELP1 Gene HSAN3 Testing?
This genetic test is recommended for individuals presenting with symptoms suggestive of Hereditary Sensory and Autonomic Neuropathy Type III, including:
- Impaired pain and temperature sensation from early childhood
- Gastrointestinal dysfunction including feeding difficulties
- Autonomic nervous system abnormalities
- Episodic vomiting and cardiovascular instability
- Developmental delays and growth abnormalities
- Family history of neurological disorders
- Individuals of Ashkenazi Jewish descent with neurological symptoms
Key Benefits of ELP1 Gene HSAN3 Genetic Testing
Undergoing ELP1 gene testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirm or rule out HSAN3 with high accuracy
- Early Intervention: Enable timely management of symptoms
- Family Planning: Provide crucial information for reproductive decisions
- Personalized Treatment: Guide targeted therapeutic approaches
- Genetic Counseling: Support informed family health decisions
- Prognostic Information: Understand disease progression patterns
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your ELP1 gene test results:
- Positive Result: Indicates presence of ELP1 gene mutations associated with HSAN3, confirming diagnosis and enabling appropriate medical management
- Negative Result: Suggests absence of known HSAN3-associated mutations, though clinical correlation with symptoms remains important
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning decisions
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ELP1 Gene HSAN3 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing ELP1 gene testing, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss testing implications
- Development of a detailed pedigree chart documenting family members affected with ELP1-related conditions
- Discussion of potential outcomes and their implications
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, and many more. Our network of certified genetic counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. The ELP1 Gene HSAN3 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. Our team of genetic specialists and neurologists 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 genetic counseling session and book your ELP1 gene test. Take the first step toward understanding your genetic health and securing your family’s future.
