CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete NGS Genetic DNA Test
Understanding CYP11A1 Gene Disorders
The CYP11A1 gene plays a critical role in steroid hormone production, specifically in the conversion of cholesterol to pregnenolone, which serves as the precursor for all steroid hormones. Mutations in this gene can lead to congenital adrenal insufficiency and significant developmental abnormalities, particularly affecting sexual differentiation in 46XY individuals.
What This Test Measures
This advanced NGS genetic DNA test specifically analyzes the CYP11A1 gene to identify pathogenic variants that cause:
- Complete or partial adrenal insufficiency
- 46XY sex reversal conditions
- Disorders of steroid hormone biosynthesis
- Congenital adrenal hyperplasia-like symptoms
- Developmental abnormalities in sexual differentiation
Who Should Consider This Test?
This specialized genetic test is recommended for individuals presenting with:
- Ambiguous genitalia at birth in 46XY individuals
- Adrenal crisis symptoms in infancy or childhood
- Family history of congenital adrenal disorders
- Unexplained developmental delays in sexual characteristics
- History of salt-wasting crises or electrolyte imbalances
- Primary adrenal insufficiency without clear cause
Clinical Symptoms and Indications
Patients may experience symptoms including severe dehydration, vomiting, poor weight gain, hyperpigmentation, and life-threatening adrenal crises. Early diagnosis through genetic testing can prevent serious complications and guide appropriate hormone replacement therapy.
Benefits of CYP11A1 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of CYP11A1-related disorders
- Personalized Treatment: Enables targeted hormone replacement therapy
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Allows for proactive management of adrenal crises
- Comprehensive Care: Supports multidisciplinary approach involving endocrinology, genetics, and urology specialists
Understanding Your Test Results
Test results will indicate whether pathogenic variants are present in the CYP11A1 gene. Positive results confirm the genetic basis for adrenal insufficiency and sex development disorders, while negative results may suggest alternative diagnoses. All results are accompanied by detailed interpretation and recommendations from our certified genetic counselors.
Clinical Management Guidance
Positive test results typically lead to:
- Immediate initiation of glucocorticoid and mineralocorticoid replacement therapy
- Regular monitoring of electrolyte balance and growth parameters
- Surgical consultation for genital reconstruction if indicated
- Long-term endocrine follow-up care
- Genetic counseling for family members
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CYP11A1 Gene Adrenal Insufficiency Congenital with 46XY Sex Reversal Partial or Complete NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of symptoms and previous diagnostic evaluations
- Informed consent for genetic testing
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our specialized CYP11A1 genetic testing provides the clarity needed for proper diagnosis and management of congenital adrenal insufficiency and related disorders. Our team of genetic specialists and endocrinologists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Early diagnosis can make a significant difference in managing these complex endocrine conditions effectively.
