Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test
Comprehensive Genetic Screening for Adrenal Disorders
The Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test represents a breakthrough in diagnostic precision for adrenal gland disorders. This advanced genetic screening utilizes next-generation sequencing technology to analyze eight critical genes associated with congenital adrenal hyperplasia (CAH), a group of inherited conditions affecting the adrenal glands’ ability to produce essential hormones. Early and accurate diagnosis through this comprehensive panel can prevent life-threatening complications and guide effective treatment strategies.
What Does This Test Measure and Detect?
Our NGS-based Congenital Adrenal Hyperplasia Panel meticulously examines mutations across eight essential genes:
- CYP21A2: The most common cause of CAH (21-hydroxylase deficiency)
- CYP11B1: Associated with 11-beta-hydroxylase deficiency
- CYP17A1: Involved in 17-alpha-hydroxylase deficiency
- HSD3B2: Related to 3-beta-hydroxysteroid dehydrogenase deficiency
- CYP11A1: Cholesterol side-chain cleavage enzyme deficiency
- POR: P450 oxidoreductase deficiency
- PRKAR1A: Associated with Carney complex
- STAR: Steroidogenic acute regulatory protein deficiency
Who Should Consider This Genetic Test?
This comprehensive panel is recommended for individuals presenting with:
- Newborns with ambiguous genitalia or atypical genital development
- Infants experiencing salt-wasting crises with vomiting, dehydration, and shock
- Children showing signs of premature puberty or virilization
- Individuals with family history of CAH or unexplained adrenal insufficiency
- Patients with hypertension and hypokalemia suggesting mineralocorticoid excess
- Women with primary amenorrhea or infertility concerns
- Individuals with abnormal steroid hormone profiles
Significant Benefits of Early CAH Detection
Undergoing the Congenital Adrenal Hyperplasia Panel offers numerous advantages:
- Prevention of Adrenal Crises: Early identification allows for prompt hormone replacement, preventing life-threatening situations
- Accurate Diagnosis: Differentiates between various CAH types for targeted treatment
- Family Planning Guidance: Provides crucial information for genetic counseling and recurrence risk assessment
- Treatment Optimization: Enables precise hormone replacement therapy dosages
- Improved Quality of Life: Proper management prevents long-term complications and supports normal development
- Reproductive Health Management: Helps address fertility issues and menstrual irregularities
Understanding Your Test Results
Our comprehensive genetic counseling session helps you interpret your results:
- Positive Result: Indicates mutation(s) in one or more CAH-associated genes, confirming diagnosis and guiding treatment
- Negative Result: Suggests low probability of tested CAH types, though other adrenal disorders may require evaluation
- Variant of Uncertain Significance: Some genetic changes require additional family studies for proper interpretation
- Carrier Status: Identifies individuals carrying one copy of mutated gene, important for family planning
All results are accompanied by detailed explanations from our certified genetic counselors, ensuring you fully understand the implications for your health and family.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $750 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Pre-test Requirements | Clinical History and Genetic Counseling Session |
Nationwide Availability Across USA
We proudly serve patients throughout the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about adrenal health concerns affect your quality of life. Our Congenital Adrenal Hyperplasia Panel provides the definitive answers you need for proper diagnosis and management. With our special discount price of $500 USD (regularly $750), comprehensive genetic counseling, and rapid 3-4 week turnaround, there’s never been a better time to take this important step toward better health.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through every step of the process and answer all your questions about congenital adrenal hyperplasia testing.
