CASR Gene Hypocalciuric Hypercalcemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Calcium Metabolism Disorders
The CASR Gene Hypocalciuric Hypercalcemia Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited disorders of calcium homeostasis. This sophisticated genetic analysis utilizes next-generation sequencing technology to examine the calcium-sensing receptor (CASR) gene, which plays a critical role in maintaining calcium balance throughout the body. Understanding your genetic predisposition to calcium metabolism disorders can provide life-changing insights into your health management and treatment options.
What This Advanced Genetic Test Detects
This comprehensive NGS-based test specifically targets mutations in the CASR gene located on chromosome 3q21.1. The calcium-sensing receptor is a G-protein coupled receptor predominantly expressed in the parathyroid glands and kidneys, where it regulates parathyroid hormone secretion and renal calcium handling. The test identifies:
- Pathogenic variants associated with familial hypocalciuric hypercalcemia type 1
- Single nucleotide polymorphisms affecting calcium receptor function
- Deletion/duplication mutations impacting gene expression
- Inheritance patterns through family genetic analysis
Who Should Consider This Genetic Testing
This test is particularly recommended for individuals experiencing:
- Unexplained persistent hypercalcemia with normal or mildly elevated PTH levels
- Family history of calcium metabolism disorders or endocrine abnormalities
- Recurrent kidney stones or nephrolithiasis without clear cause
- Early-onset osteoporosis or bone density concerns
- Pancreatitis episodes with concurrent calcium abnormalities
- Multiple endocrine involvement affecting calcium regulation
- Children with developmental delays and calcium metabolism issues
Significant Benefits of Genetic Testing
Undergoing the CASR gene testing provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out familial hypocalciuric hypercalcemia with high accuracy
- Family Planning: Enables informed reproductive decisions and genetic counseling
- Treatment Guidance: Helps avoid unnecessary parathyroid surgery in benign conditions
- Early Intervention: Facilitates proactive management of potential complications
- Comprehensive Care: Integrates findings across endocrinology, nephrology, and hepatology specialties
- Lifetime Value: Provides permanent genetic information for ongoing healthcare decisions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical specialists:
- Positive Result: Indicates the presence of a pathogenic CASR gene mutation, confirming familial hypocalciuric hypercalcemia type 1 diagnosis
- Negative Result: Suggests absence of known CASR mutations, though other genetic or acquired causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines inheritance patterns and risk to future generations
All positive results include detailed genetic counseling to help you understand implications for your health and family members.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | CASR Gene Hypocalciuric Hypercalcemia Type 1 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 | Genetic Endocrinology |
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation of calcium-related symptoms
- Genetic counseling session to create detailed family pedigree chart
- Review of previous calcium, PTH, and vitamin D laboratory results
- Discussion of testing implications with healthcare provider
- Informed consent process for genetic testing
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about calcium metabolism disorders affect your quality of life. Our advanced CASR gene testing provides the clarity needed for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health journey.
Book your CASR Gene Hypocalciuric Hypercalcemia Type 1 NGS Genetic DNA Test today by calling our dedicated genetic specialists at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic predisposition to calcium metabolism disorders and receive expert guidance from our multidisciplinary team of endocrinology, nephrology, and genetics professionals.
