HSD17B4 Gene Perrault Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The HSD17B4 Gene Perrault Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Perrault syndrome. This rare autosomal recessive disorder affects multiple body systems, primarily causing sensorineural hearing loss and ovarian dysfunction in females, along with various neurological manifestations. Our advanced testing methodology provides families and healthcare providers with definitive answers for complex diagnostic challenges.
What Does the HSD17B4 Gene Perrault Syndrome Test Measure?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the HSD17B4 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the HSD17B4 gene
- Autosomal recessive inheritance patterns
- Variants associated with 17β-hydroxysteroid dehydrogenase type 4 deficiency
- Genetic markers linked to Perrault syndrome manifestations
- Potential carrier status for family members
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Progressive sensorineural hearing loss beginning in childhood
- Premature ovarian failure or primary ovarian insufficiency
- Neurological symptoms including ataxia, neuropathy, or cognitive impairment
- Family history of similar symptoms across generations
- Unexplained developmental delays with hearing involvement
- Consanguineous parentage with neurological concerns
Key Benefits of HSD17B4 Genetic Testing
Choosing our comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Eliminate diagnostic uncertainty with precise genetic confirmation
- Family Planning Guidance: Understand inheritance risks for future generations
- Personalized Management: Develop targeted treatment and monitoring strategies
- Early Intervention: Implement appropriate support services promptly
- Genetic Counseling: Receive expert interpretation and family risk assessment
- Research Contribution: Help advance understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully comprehend your results:
- Positive Result: Indicates presence of pathogenic HSD17B4 variants confirming Perrault syndrome diagnosis
- Negative Result: Suggests absence of tested mutations, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single copy mutations who may pass the condition to offspring
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | HSD17B4 Gene Perrault Syndrome 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 |
| Testing Method | 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, and San Jose. Our network of certified genetic counselors and specialized neurologists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our HSD17B4 Gene Perrault Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling included, you can access world-class diagnostic services without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
