STAR Gene Lipoid Congenital Adrenal Hyperplasia NGS Genetic DNA Test
Comprehensive Genetic Testing for Adrenal Disorders
The STAR Gene Lipoid Congenital Adrenal Hyperplasia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare endocrine disorders. This advanced test utilizes next-generation sequencing technology to identify mutations in the STAR (Steroidogenic Acute Regulatory Protein) gene, which plays a critical role in cholesterol transport within steroid-producing cells. Lipoid congenital adrenal hyperplasia is a severe form of adrenal insufficiency that can be life-threatening if not properly diagnosed and managed.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the STAR gene, which encodes the steroidogenic acute regulatory protein essential for cholesterol transport into mitochondria. The test identifies:
- Point mutations, deletions, and insertions in the STAR gene
- Genetic variants that disrupt steroid hormone synthesis
- Mutations affecting adrenal and gonadal steroidogenesis
- Inheritance patterns for genetic counseling purposes
- Specific genetic markers associated with disease severity
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Newborns with signs of adrenal crisis (vomiting, dehydration, hypotension)
- Infants with ambiguous genitalia or atypical sexual development
- Children with failure to thrive and salt-wasting symptoms
- Individuals with family history of congenital adrenal hyperplasia
- Patients with unexplained adrenal insufficiency
- Those with suspected steroid hormone synthesis disorders
Clinical Benefits of Genetic Testing
Early and accurate diagnosis through STAR gene testing provides numerous clinical advantages:
- Enables timely initiation of life-saving hormone replacement therapy
- Prevents adrenal crises through proper medical management
- Facilitates genetic counseling for family planning decisions
- Guides appropriate treatment strategies based on genetic findings
- Provides clarity for ambiguous genitalia cases
- Supports comprehensive multidisciplinary care planning
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and endocrinologists:
- Positive Result: Indicates the presence of pathogenic mutations in the STAR gene, confirming diagnosis of lipoid congenital adrenal hyperplasia
- Negative Result: Suggests absence of detectable STAR gene mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional clinical evaluation and possibly family studies
- Carrier Status: Identifies individuals who carry one copy of the mutated gene but typically don’t show symptoms
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take Action for Your Health
Don’t wait to get the answers you need for proper diagnosis and treatment. Our genetic counselors and endocrinology specialists are ready to help you understand your risk and guide you through the testing process. Early detection can make a significant difference in managing this condition effectively.
Book your STAR Gene Lipoid Congenital Adrenal Hyperplasia NGS Genetic DNA Test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward accurate diagnosis and comprehensive care management.
