CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test
Understanding CASR Gene Hyperparathyroidism Testing
The CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test represents a breakthrough in pediatric endocrine diagnostics. This advanced genetic screening examines the calcium-sensing receptor (CASR) gene, which plays a critical role in maintaining calcium homeostasis throughout the body. When mutations occur in this gene, they can lead to severe neonatal hyperparathyroidism—a life-threatening condition characterized by dangerously elevated calcium levels in newborns.
What Does This Test Measure?
Our comprehensive NGS-based test specifically targets the CASR gene located on chromosome 3q21.1. The test analyzes:
- Complete coding regions of the CASR gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with neonatal severe hyperparathyroidism
- Novel mutations that may disrupt calcium receptor function
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for newborns and infants presenting with:
- Severe hypercalcemia (elevated blood calcium levels)
- Failure to thrive and poor weight gain
- Bone demineralization and fractures
- Respiratory distress due to chest wall abnormalities
- Family history of calcium metabolism disorders
- Parental consanguinity or known CASR gene mutations
Benefits of CASR Gene Testing
Early genetic diagnosis through our NGS test provides numerous advantages:
- Early Intervention: Enables prompt treatment to prevent life-threatening complications
- Family Planning: Provides crucial information for genetic counseling and future pregnancies
- Targeted Therapy: Guides appropriate medical management strategies
- Prognostic Information: Helps predict disease course and potential complications
- Differential Diagnosis: Distinguishes between various forms of hyperparathyroidism
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive report includes detailed analysis of your genetic findings:
- Positive Result: Indicates presence of pathogenic CASR gene mutation, confirming diagnosis of neonatal severe hyperparathyroidism
- Negative Result: No mutation detected, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and genetic counseling
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Genetic Endocrinology
Nationwide Testing Availability
We have diagnostic centers across all major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure accurate and reliable genetic testing with comprehensive genetic counseling support.
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members with CASR gene disorders
- Informed consent for genetic testing
Take Action Today
Don’t wait to get the answers you need for your child’s health. Early diagnosis of CASR gene mutations can significantly improve treatment outcomes and quality of life. Our expert genetic counselors are available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test and take the first step toward accurate diagnosis and effective treatment planning.
