CAH Deletion Duplication Detection Test
Understanding Congenital Adrenal Hyperplasia Genetic Testing
Congenital Adrenal Hyperplasia (CAH) represents a group of inherited genetic disorders affecting the adrenal glands’ ability to produce essential hormones. The CAH Deletion Duplication Detection test is a sophisticated genetic analysis specifically designed to identify deletions and duplications in the CYP21A2 gene, which is responsible for encoding the 21-hydroxylase enzyme. This enzyme plays a critical role in cortisol and aldosterone production, and its deficiency leads to the most common form of CAH.
What Does the CAH Deletion Duplication Detection Test Measure?
This advanced genetic test utilizes MLPA (Multiplex Ligation-dependent Probe Amplification) technology to detect:
- Complete and partial gene deletions in the CYP21A2 gene
- Gene duplications that may affect enzyme function
- Copy number variations that standard sequencing methods might miss
- Large rearrangements in the genetic region responsible for 21-hydroxylase production
Who Should Consider CAH Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Ambiguous genitalia in newborns
- Early signs of puberty or virilization in children
- Family history of Congenital Adrenal Hyperplasia
- Unexplained adrenal insufficiency symptoms
- Salt-wasting crises in infancy
- Couples planning pregnancy with known CAH family history
- Individuals with suspected late-onset CAH symptoms
Benefits of CAH Deletion Duplication Detection
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CAH with high precision
- Early Intervention: Enables timely treatment to prevent complications
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Helps tailor appropriate hormone replacement therapy
- Risk Assessment: Identifies carrier status for family members
- Peace of Mind: Reduces uncertainty about genetic health status
Understanding Your Test Results
Interpreting Genetic Findings
Your CAH Deletion Duplication Detection results will be carefully analyzed and explained by our genetic specialists:
- Normal Result: No deletions or duplications detected in the CYP21A2 gene
- Positive for Deletion/Duplication: Identified genetic variations affecting 21-hydroxylase function
- Carrier Status: Identification of one affected gene copy
- Complex Findings: Multiple genetic variations requiring detailed interpretation
Our genetic counselors will provide comprehensive guidance on what your results mean for your health and family planning decisions.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CAH Deletion Duplication Detection |
| Discount Price | $262 USD |
| Regular Price | $350 USD |
| Turnaround Time | 7-10 days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | MLPA (Multiplex Ligation-dependent Probe Amplification) |
Pre-Test Instructions
The CAH Deletion Duplication Detection test requires a Doctor’s prescription for most cases. Prescription requirements do not apply for surgery preparation, pregnancy-related testing, or individuals planning international travel. Our team will guide you through the necessary preparation steps and ensure all requirements are met before your testing appointment.
Nationwide Testing Availability
We have conveniently located branches across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your health decisions. The CAH Deletion Duplication Detection test provides the clarity you need for informed healthcare choices. Our experienced genetic specialists are ready to assist you with comprehensive testing and personalized guidance.
Book your CAH Deletion Duplication Detection test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health with confidence and professional support.
