CDC73 Gene Hyperparathyroidism Type 1 Familial NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Hyperparathyroidism
The CDC73 Gene Hyperparathyroidism Type 1 Familial NGS Genetic DNA Test represents a breakthrough in endocrine genetic diagnostics, offering precise detection of mutations associated with familial hyperparathyroidism. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify specific variants in the CDC73 gene that are responsible for hereditary parathyroid disorders affecting calcium metabolism and endocrine function.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the CDC73 gene (also known as HRPT2), which plays a critical role in parathyroid gland function and calcium homeostasis. The test identifies:
- Pathogenic mutations in the CDC73 gene associated with Hyperparathyroidism-Jaw Tumor Syndrome
- Genetic variants linked to familial isolated hyperparathyroidism
- Inherited mutations that increase risk for parathyroid carcinoma
- Specific nucleotide changes affecting parathyroid hormone regulation
- Genetic markers for early-onset hypercalcemia and bone disorders
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Unexplained persistent hypercalcemia (elevated blood calcium levels)
- Family history of hyperparathyroidism or parathyroid tumors
- Recurrent kidney stones or nephrolithiasis
- Early-onset osteoporosis or bone density issues
- Multiple endocrine neoplasia symptoms without other genetic causes
- Jaw tumors or fibro-osseous lesions of the mandible
- Unexplained fatigue, muscle weakness, or cognitive changes
- Gastrointestinal symptoms related to calcium imbalance
Clinical Benefits of Genetic Testing
Undergoing the CDC73 genetic test provides numerous advantages for patients and healthcare providers:
- Early Risk Identification: Detect genetic predisposition before symptoms develop
- Personalized Treatment Planning: Tailor monitoring and intervention strategies
- Family Screening: Identify at-risk relatives for proactive management
- Cancer Prevention: Early detection reduces risk of parathyroid carcinoma
- Comprehensive Health Management: Coordinate care across endocrinology, nephrology, and hepatology specialties
- Reproductive Planning: Informed decisions for family planning
Understanding Your Test Results
Your genetic test results will be carefully analyzed and interpreted by our expert genetic counselors:
- Positive Result: Indicates presence of CDC73 gene mutation, requiring regular monitoring and specialist consultation
- Negative Result: No detected mutation, though clinical monitoring may still be recommended based on symptoms
- Variant of Uncertain Significance: Requires additional family studies and periodic re-evaluation
- Carrier Status: Important information for family planning and genetic counseling
All positive results include detailed recommendations for ongoing surveillance, including regular calcium level monitoring, bone density scans, and periodic imaging of parathyroid glands.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| CDC73 Gene Hyperparathyroidism Type 1 Familial NGS Genetic DNA Test – Discount Price | $500 |
| CDC73 Gene Hyperparathyroidism Type 1 Familial NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
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, San Jose, and many more. Our network of certified genetic testing centers ensures accessible, reliable service regardless of your location.
Pre-Test Requirements and Sample Collection
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications and potential outcomes
- Sample collection options: Blood, Extracted DNA, or One drop Blood on FTA Card
- Turnaround time: 3 to 4 weeks for comprehensive analysis
Take Control of Your Endocrine Health Today
Don’t wait for symptoms to escalate. Early genetic detection of CDC73 mutations can significantly improve long-term health outcomes and quality of life. Our team of genetic specialists, endocrinologists, and certified counselors are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your CDC73 Gene Hyperparathyroidism Type 1 Familial NGS Genetic DNA Test. Take the first step toward personalized endocrine health management and proactive genetic care.
