CYP11B1 Gene Adrenal Hyperplasia Due to Steroid 11-Beta-Hydroxylase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Adrenal Disorders
The CYP11B1 Gene Adrenal Hyperplasia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for adrenal disorders. This advanced test specifically targets mutations in the CYP11B1 gene, which encodes the enzyme 11-beta-hydroxylase essential for cortisol and aldosterone production. When this enzyme is deficient, it leads to congenital adrenal hyperplasia (CAH), a serious metabolic disorder affecting adrenal gland function and hormone regulation.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the CYP11B1 gene to identify:
- Point mutations and single nucleotide variants affecting enzyme function
- Insertions and deletions that disrupt gene expression
- Compound heterozygous mutations causing complete enzyme deficiency
- Genetic variants associated with varying severity of 11-beta-hydroxylase deficiency
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Ambiguous genitalia in newborn females
- Precocious puberty or early virilization
- Hypertension with low renin levels
- Family history of congenital adrenal hyperplasia
- Unexplained adrenal insufficiency symptoms
- Infertility or menstrual irregularities
- Electrolyte imbalances suggestive of mineralocorticoid deficiency
Clinical Benefits of CYP11B1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms 11-beta-hydroxylase deficiency with precision
- Personalized Treatment: Guides hormone replacement therapy decisions
- Family Planning: Enables informed reproductive choices and genetic counseling
- Early Intervention: Facilitates timely management to prevent complications
- Prognostic Information: Helps predict disease severity and progression
- Cost-Effective Care: Reduces unnecessary diagnostic procedures
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of CYP11B1 gene mutations confirming 11-beta-hydroxylase deficiency
- Negative Result: Suggests absence of detectable mutations in the analyzed gene regions
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated gene
All results include detailed explanations and recommendations for follow-up care with your healthcare provider.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CYP11B1 Gene Adrenal Hyperplasia Due to Steroid 11-Beta-Hydroxylase Deficiency 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their impact
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network ensures accessible genetic testing services nationwide.
Take Control of Your Adrenal Health Today
Don’t let uncertainty about adrenal disorders affect your quality of life. Our CYP11B1 genetic test provides the clarity needed for proper diagnosis and treatment. With our discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process.
