CAH Congenital Adrenal Hyperplasia Full Gene Sequence Analysis
Comprehensive Genetic Testing for Adrenal Disorders
Congenital Adrenal Hyperplasia (CAH) represents a group of inherited genetic disorders affecting the adrenal glands’ ability to produce essential hormones. Our CAH Full Gene Sequence Analysis provides a thorough examination of the genetic factors underlying these conditions, offering critical insights for diagnosis, treatment planning, and genetic counseling.
What This Test Measures and Detects
This advanced genetic analysis utilizes Sanger Sequencing technology to examine the complete DNA sequence of genes responsible for adrenal steroid hormone production. The test specifically targets:
- Complete sequencing of CYP21A2 gene and related adrenal steroidogenesis genes
- Identification of point mutations, deletions, and insertions
- Detection of genetic variants affecting cortisol and aldosterone production
- Comprehensive analysis of enzyme deficiencies in the adrenal pathway
Who Should Consider This Test
This genetic analysis is recommended for individuals experiencing:
- Ambiguous genitalia in newborns or infants
- Precocious puberty or delayed puberty development
- Unexplained salt-wasting crises in infancy
- Family history of congenital adrenal hyperplasia
- Infertility issues or menstrual irregularities
- Unexplained hypertension or electrolyte imbalances
- Planning pregnancy with family history of adrenal disorders
Key Benefits of CAH Genetic Testing
- Early Diagnosis: Enables prompt intervention and treatment initiation
- Accurate Genetic Counseling: Provides essential information for family planning
- Personalized Treatment: Guides hormone replacement therapy decisions
- Prevention of Complications: Helps avoid adrenal crises and long-term health issues
- Comprehensive Risk Assessment: Identifies carrier status and inheritance patterns
Understanding Your Test Results
Your genetic analysis results will provide detailed information about:
- Specific genetic mutations identified in adrenal-related genes
- Classification of CAH type and severity based on genetic findings
- Interpretation of clinical significance for each detected variant
- Recommendations for follow-up testing and medical management
- Genetic counseling implications for family members
Our genetic counselors and endocrinology specialists will help you understand your results and develop an appropriate management plan based on your specific genetic profile.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | CAH Congenital Adrenal Hyperplasia Full Gene Sequence Analysis |
| Discount Price | $376 USD |
| Regular Price | $500 USD |
| Turnaround Time | 4-5 weeks |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | Sanger Sequencing |
Pre-Test Instructions
The CAH Congenital Adrenal Hyperplasia Full Gene Sequence Analysis requires a Doctor’s prescription. Please note that prescription requirements do not apply for surgery and pregnancy cases or individuals planning to travel abroad. Our genetic counseling team is available to discuss any questions about the testing process.
Nationwide Accessibility
We have diagnostic centers across all major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to this specialized genetic testing regardless of your location.
Take Control of Your Genetic Health
Understanding your genetic predisposition to congenital adrenal hyperplasia can significantly impact your health management and family planning decisions. Our comprehensive genetic analysis provides the clarity needed for informed medical decisions and proactive health management.
Ready to schedule your CAH genetic testing? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and ensuring optimal adrenal function management.
