CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test
Introduction
The CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the CASR gene, which are responsible for severe neonatal hyperparathyroidism. This condition can lead to serious health complications if left undiagnosed and untreated. By identifying these genetic mutations early, healthcare providers can implement appropriate management strategies to improve patient outcomes.
What the Test Measures
This genetic test specifically measures the presence of mutations in the CASR gene. These mutations can disrupt calcium homeostasis in the body, leading to uncontrolled parathyroid hormone secretion and subsequent hypercalcemia. Early detection through this test is vital for timely intervention.
Who Should Consider This Test
Individuals who should consider the CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test include:
- Newborns exhibiting symptoms of hyperparathyroidism such as lethargy, poor feeding, and irritability.
- Infants with a family history of hyperparathyroidism or related endocrine disorders.
- Patients with unexplained hypercalcemia.
Benefits of Taking the Test
- Early diagnosis of severe neonatal hyperparathyroidism can significantly improve management and treatment outcomes.
- Identifying genetic mutations allows for informed decision-making regarding treatment options.
- The test can provide valuable information for family planning and genetic counseling.
Understanding Your Results
Results from the CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test will be provided in a clear and concise format. A genetic counselor will assist in interpreting the results and discussing the implications for treatment and family health.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to create a pedigree chart of family members affected by CASR Gene Hyperparathyroidism.
This test is conducted by a team of experienced general physicians and genetic specialists, utilizing next-generation sequencing (NGS) technology to ensure accurate and reliable results.
