CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test
Introduction
The CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test is a crucial diagnostic procedure aimed at detecting genetic mutations associated with severe neonatal hyperparathyroidism. This test employs advanced Next Generation Sequencing (NGS) technology to analyze the CASR gene, which plays a significant role in calcium homeostasis and parathyroid hormone regulation. Early detection through this test is vital for timely intervention and management of affected infants, potentially preventing severe health complications.
What the Test Measures
This genetic test specifically measures mutations in the CASR gene, which can lead to abnormal parathyroid hormone secretion and subsequent hyperparathyroidism in neonates. By identifying these mutations, healthcare providers can better understand the underlying causes of the condition and tailor treatment approaches accordingly.
Who Should Consider This Test?
Parents or guardians should consider the CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test if:
- The infant exhibits symptoms of hyperparathyroidism, such as lethargy, poor feeding, or developmental delays.
- There is a family history of hyperparathyroidism or related endocrine disorders.
- The infant has been diagnosed with other genetic conditions that may be linked to calcium metabolism issues.
Benefits of Taking the Test
- Early identification of genetic predispositions allows for proactive management of hyperparathyroidism.
- Informed decisions regarding treatment options can be made based on genetic findings.
- Parents can receive genetic counseling to understand the implications of test results for family planning.
- Potentially prevent severe health issues through early intervention.
Understanding Your Results
Results from the CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test will be interpreted by a qualified geneticist. A positive result indicates the presence of mutations in the CASR gene, which may require further clinical evaluation and management. A negative result suggests no detectable mutations, but ongoing monitoring may still be recommended based on clinical symptoms.
Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across all major cities in Kenya, providing convenience and accessibility for all our patients. To book the CASR Gene Hyperparathyroidism Neonatal Severe NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Our team is here to assist you with any inquiries and help you through the booking process.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history and genetic counseling session are recommended to ensure accurate results.
