HSD3B2 Gene 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The HSD3B2 Gene 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic disorders. This advanced genetic screening utilizes next-generation sequencing (NGS) technology to identify mutations in the HSD3B2 gene, which plays a critical role in steroid hormone biosynthesis. Early detection through this test can significantly impact treatment outcomes and quality of life for affected individuals.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the HSD3B2 gene located on chromosome 1p12. The test detects:
- Point mutations and single nucleotide variants in the HSD3B2 gene
- Insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Regulatory region abnormalities impacting gene expression
- Compound heterozygous mutations causing enzyme deficiency
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Ambiguous genitalia in newborns or infants
- Family history of 3-beta-hydroxysteroid dehydrogenase deficiency
- Adrenal insufficiency symptoms including salt-wasting crises
- Delayed puberty or abnormal sexual development
- Unexplained metabolic abnormalities in childhood
- Consanguineous parents with metabolic disorder concerns
Clinical Benefits of Genetic Testing
Early diagnosis through HSD3B2 genetic testing provides numerous advantages:
- Accurate diagnosis enabling targeted treatment strategies
- Prevention of life-threatening adrenal crises through proper management
- Informed family planning decisions and genetic counseling
- Early intervention to support normal growth and development
- Reduced diagnostic uncertainty and unnecessary medical procedures
- Personalized hormone replacement therapy planning
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our certified genetic counselors and metabolic specialists:
- Positive Result: Indicates confirmed HSD3B2 gene mutation requiring immediate endocrine consultation and treatment planning
- Negative Result: Suggests absence of detectable mutations in the HSD3B2 gene, though other metabolic disorders may need consideration
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation for proper interpretation
- Carrier Status: Identifies individuals who may pass the condition to offspring but remain unaffected themselves
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
General Genetics Corporation provides comprehensive HSD3B2 genetic testing services across all major cities in the United States. Our state-of-the-art laboratories in New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia ensure rapid processing and accurate results within 3-4 weeks. We collaborate with leading metabolic specialists and genetic counselors to provide integrated care.
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Appropriate sample collection (Blood, Extracted DNA, or Blood on FTA Card)
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your family’s future. Our expert genetic team is ready to guide you through the testing process and provide comprehensive support. Early detection of HSD3B2 deficiency can transform treatment outcomes and prevent serious complications.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session and book your HSD3B2 Gene Deficiency Test. Our compassionate team is available to answer all your questions and help you take the first step toward genetic clarity and better health management.
