PRKAR1A Gene Pigmented Nodular Adrenocortical Disease Type 1 Primary NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Endocrine Disorders
The PRKAR1A Gene Pigmented Nodular Adrenocortical Disease Type 1 Primary NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare endocrine conditions. This sophisticated genetic analysis utilizes next-generation sequencing technology to identify mutations in the PRKAR1A gene, which plays a critical role in regulating adrenal gland function and cellular growth control.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the PRKAR1A gene, which encodes the regulatory subunit type 1A of protein kinase A. This test detects:
- Point mutations and small insertions/deletions in the PRKAR1A gene
- Genetic variations associated with Carney Complex
- Mutations linked to primary pigmented nodular adrenocortical disease (PPNAD)
- Inherited genetic markers for multiple endocrine neoplasia
- Variants affecting cAMP-dependent protein kinase signaling pathways
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Clinical symptoms of Cushing’s syndrome including weight gain, moon face, and hypertension
- Multiple pigmented skin lesions or lentigines
- Family history of endocrine tumors or Carney Complex
- Early-onset adrenal insufficiency or adrenal masses
- Cardiac myxomas or other tumor manifestations
- Unexplained endocrine abnormalities in childhood or adolescence
Significant Benefits of PRKAR1A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt identification of genetic predisposition before severe symptoms develop
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Monitoring: Allows for regular surveillance of at-risk individuals
- Definitive Answers: Offers conclusive genetic evidence for complex endocrine presentations
- Reduced Diagnostic Uncertainty: Minimizes unnecessary testing and medical procedures
Understanding Your Genetic Test Results
Our comprehensive genetic counseling service helps you interpret your results effectively:
- Positive Result: Indicates the presence of a PRKAR1A gene mutation, confirming genetic predisposition to PPNAD and Carney Complex
- Negative Result: Suggests absence of known pathogenic variants, though clinical monitoring may still be recommended
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns and family member risk assessment
All results are accompanied by detailed explanations from our certified genetic counselors, ensuring you fully understand the implications for your health management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| PRKAR1A Gene Pigmented Nodular Adrenocortical Disease Type 1 Primary NGS Genetic DNA Test – Discount Price | $500 |
| PRKAR1A Gene Pigmented Nodular Adrenocortical Disease Type 1 Primary NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic predisposition to endocrine disorders affect your quality of life. Our PRKAR1A genetic testing provides the clarity needed for informed healthcare decisions. With results available in just 3-4 weeks and comprehensive genetic counseling included, you’ll gain valuable insights into your genetic health profile.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic testing appointment. Our dedicated team is ready to answer your questions and guide you through the testing process with compassion and expertise.
Sample Requirements: Blood, Extracted DNA, or One Drop of Blood on FTA Card
Turnaround Time: 3-4 Weeks
Pre-test Requirements: Clinical History and Genetic Counseling Session
