HSD17B3 Gene Pseudohermaphroditism with Gynecomastia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Sexual Development Disorders
The HSD17B3 Gene Pseudohermaphroditism with Gynecomastia NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for disorders of sexual development. This specialized test focuses on the HSD17B3 gene, which encodes the enzyme 17-beta-hydroxysteroid dehydrogenase type 3, crucial for testosterone biosynthesis in the testes. Mutations in this gene lead to 17-beta-hydroxysteroid dehydrogenase deficiency, a rare autosomal recessive condition that affects sexual differentiation and development.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets the HSD17B3 gene to identify pathogenic variants that disrupt normal testosterone production. The test examines:
- Point mutations, deletions, and insertions in the HSD17B3 gene
- Genetic variants affecting enzyme function and testosterone synthesis
- Mutations responsible for 17-beta-hydroxysteroid dehydrogenase type 3 deficiency
- Genetic markers associated with pseudohermaphroditism and gynecomastia
- Inheritance patterns through comprehensive genetic analysis
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with specific clinical features and symptoms related to disorders of sexual development:
Clinical Indications and Symptoms
- Newborns and infants with ambiguous genitalia or atypical genital development
- Males with female external genitalia at birth but normal internal male structures
- Individuals developing gynecomastia during puberty or adulthood
- Patients with delayed puberty or incomplete virilization
- Those with family history of pseudohermaphroditism or sexual development disorders
- Individuals experiencing infertility related to hormonal imbalances
- Patients with elevated androstenedione-to-testosterone ratios
Significant Benefits of Genetic Testing
Undergoing the HSD17B3 Gene Pseudohermaphroditism with Gynecomastia NGS Genetic DNA Test provides numerous clinical advantages:
Diagnostic and Clinical Benefits
- Accurate Diagnosis: Confirms 17-beta-hydroxysteroid dehydrogenase deficiency with precision
- Treatment Guidance: Informs appropriate hormone replacement therapy and surgical interventions
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Enables timely management of hormonal imbalances and developmental issues
- Psychological Support: Helps patients and families understand the biological basis of their condition
- Personalized Care: Facilitates tailored treatment approaches based on genetic findings
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your HSD17B3 gene status:
Result Interpretation Guidelines
- Positive Result: Identifies pathogenic mutations confirming 17-beta-hydroxysteroid dehydrogenase deficiency diagnosis
- Negative Result: No disease-causing variants detected in the HSD17B3 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | HSD17B3 Gene Pseudohermaphroditism with Gynecomastia 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 |
| Specialty | General Physician / Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements and Preparation
To ensure accurate results and comprehensive care, we require:
- Complete Clinical History: Detailed medical background of the patient
- Genetic Counseling Session: Professional genetic counseling to create a family pedigree chart
- Documentation: Records of affected family members with pseudohermaphroditism or gynecomastia
Nationwide Accessibility Across the United States
We proudly serve patients throughout 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 more cities. Our network of certified genetic testing facilities ensures accessible, reliable service regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a loved one are experiencing symptoms of pseudohermaphroditism, gynecomastia, or other disorders of sexual development, our HSD17B3 genetic test can provide the answers you need for proper diagnosis and treatment. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your HSD17B3 Gene Pseudohermaphroditism with Gynecomastia NGS Genetic DNA Test. Take control of your genetic health with our comprehensive, affordable testing services.
