AP2S1 Gene Hypocalciuric Hypercalcemia Familial Type 3 NGS Genetic DNA Test
Understanding AP2S1 Gene Testing for Familial Hypercalcemia
The AP2S1 Gene Hypocalciuric Hypercalcemia Familial Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for calcium metabolism disorders. This advanced test specifically targets the AP2S1 gene, which plays a critical role in calcium-sensing receptor (CaSR) signaling pathways. When mutations occur in this gene, they disrupt normal calcium homeostasis, leading to familial hypocalciuric hypercalcemia type 3—a rare inherited condition characterized by elevated blood calcium levels with paradoxically low urinary calcium excretion.
What This Test Measures and Detects
Our comprehensive NGS genetic analysis examines the complete coding region of the AP2S1 gene to identify pathogenic variants responsible for familial hypocalciuric hypercalcemia type 3. The test specifically detects:
- Point mutations in the AP2S1 gene coding sequence
- Small insertions and deletions affecting gene function
- Genetic variants that impair adaptor protein complex 2 sigma subunit 1
- Mutations disrupting calcium-sensing receptor endocytosis and signaling
Who Should Consider AP2S1 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with specific clinical indications:
- Unexplained persistent hypercalcemia with normal or elevated PTH levels
- Family history of calcium metabolism disorders or familial hypercalcemia
- Patients with hypocalciuria (low urinary calcium) despite hypercalcemia
- Individuals with symptoms suggesting calcium regulation abnormalities
- Those requiring differential diagnosis from primary hyperparathyroidism
- Family members of individuals with confirmed AP2S1 mutations
Clinical Symptoms and Presentation
Patients with AP2S1-related familial hypocalciuric hypercalcemia type 3 may experience:
- Mild to moderate hypercalcemia without severe symptoms
- Fatigue and generalized weakness
- Occasional kidney stones or nephrocalcinosis
- Mild cognitive symptoms in some cases
- Typically benign clinical course compared to other hypercalcemic disorders
Benefits of AP2S1 Genetic DNA Testing
Undergoing AP2S1 genetic testing provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out familial hypocalciuric hypercalcemia type 3
- Family Screening: Enables targeted testing of at-risk relatives
- Treatment Guidance: Helps avoid unnecessary parathyroid surgery
- Prognostic Information: Provides insights into disease progression and management
- Reproductive Planning: Assists in family planning decisions for inherited conditions
- Peace of Mind: Reduces diagnostic uncertainty and anxiety
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your AP2S1 test results:
- Positive Result: Indicates presence of pathogenic AP2S1 mutation confirming familial hypocalciuric hypercalcemia type 3 diagnosis
- Negative Result: Suggests absence of detectable AP2S1 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines inheritance patterns for family planning purposes
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | AP2S1 Gene Hypocalciuric Hypercalcemia Familial Type 3 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
Before undergoing AP2S1 genetic testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Review of calcium and parathyroid hormone laboratory results
- Discussion of potential outcomes and their clinical significance
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Genetic Health Today
Don’t let uncertainty about calcium metabolism disorders affect your quality of life. Our AP2S1 genetic testing provides definitive answers and empowers you with knowledge for better health management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your healthcare journey.
Ready to schedule your AP2S1 genetic 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 with compassion and expertise.
