CYP21A2 Gene Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Adrenal Disorders
The CYP21A2 Gene Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets mutations in the CYP21A2 gene, which plays a critical role in cortisol and aldosterone production. When this gene malfunctions, it leads to congenital adrenal hyperplasia (CAH), a serious condition affecting adrenal gland function and hormone regulation.
What Does This Test Measure?
This sophisticated genetic analysis utilizes next-generation sequencing (NGS) technology to examine the entire CYP21A2 gene for mutations and variations. The test specifically detects:
- Point mutations affecting enzyme function
- Gene deletions and duplications
- Frameshift mutations disrupting protein structure
- Splice site variants affecting gene expression
- Large gene rearrangements
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with specific symptoms or risk factors:
- Newborns with ambiguous genitalia or atypical genital development
- Children experiencing early puberty or rapid growth
- Individuals with salt-wasting symptoms including vomiting, dehydration, and poor weight gain
- Patients with family history of congenital adrenal hyperplasia
- Women experiencing irregular menstrual cycles or fertility issues
- Individuals with unexplained adrenal insufficiency
Clinical Benefits of Genetic Testing
Early detection through CYP21A2 gene testing provides numerous clinical advantages:
- Prevention of life-threatening adrenal crises through timely intervention
- Personalized hormone replacement therapy planning
- Improved management of salt-wasting symptoms
- Better understanding of fertility implications
- Accurate genetic counseling for family planning
- Reduced risk of long-term complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates the presence of CYP21A2 gene mutations confirming 21-hydroxylase deficiency. This requires immediate medical management and hormone replacement therapy.
- Negative Result: Suggests no mutations detected in the CYP21A2 gene, though clinical correlation with symptoms is essential.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | CYP21A2 Gene Adrenal Hyperplasia Due to 21-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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across major metropolitan areas throughout the United States, including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
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 outcomes and next steps
Take Control of Your Health Today
Don’t let uncertainty about adrenal health impact your quality of life. Early genetic testing for CYP21A2 mutations can provide life-saving information and guide appropriate medical management. Our experienced genetic counselors and medical professionals 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 comprehensive genetic assessment and take the first step toward personalized healthcare management.
