DHH Gene 46,XY Gonadal Dysgenesis Partial with Minifascicular Neuropathy NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Neurological and Reproductive Disorders
The DHH Gene 46,XY Gonadal Dysgenesis Partial with Minifascicular Neuropathy NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare genetic conditions that affect both reproductive development and peripheral nervous system function. This specialized test utilizes next-generation sequencing (NGS) technology to provide comprehensive analysis of the DHH gene, which plays a critical role in embryonic development and nerve function regulation.
What This Advanced Genetic Test Detects
This sophisticated diagnostic test specifically targets mutations in the DHH (Desert Hedgehog) gene, which is essential for proper gonadal development and peripheral nerve myelination. The test identifies:
- Pathogenic variants in the DHH gene associated with 46,XY gonadal dysgenesis
- Genetic mutations causing partial gonadal dysgenesis with minifascicular neuropathy
- Inheritance patterns and carrier status information
- Specific nucleotide changes affecting protein function
- Deletion/duplication variants through comprehensive NGS analysis
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Incomplete male sexual development despite 46,XY karyotype
- Muscle weakness or atrophy in extremities
- Sensory disturbances including numbness or tingling
- Family history of similar reproductive or neurological conditions
- Unexplained peripheral neuropathy symptoms
- Delayed puberty or ambiguous genitalia
- Progressive neurological symptoms with reproductive abnormalities
Significant Benefits of DHH Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out DHH gene-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management of both neurological and reproductive aspects
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic conditions
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic DHH gene mutation, confirming diagnosis and guiding treatment
- Negative Result: Suggests absence of detectable DHH mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations for next steps, including consultation with genetic specialists and neurologists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| DHH Gene 46,XY Gonadal Dysgenesis Partial with Minifascicular Neuropathy NGS Genetic DNA Test |
Discount Price: $500 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major cities including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure accurate and reliable results within 3-4 weeks from sample collection.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our specialized DHH gene testing provides the clarity required for informed medical decisions and personalized care planning. With our discounted pricing and nationwide availability, accessing this advanced genetic analysis has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
Our team of genetic counselors and neurological specialists is ready to guide you through the testing process and help interpret your results for optimal health management.
