Short Description

NGS genetic DNA test detecets for variant and mutation detection in CASR gene for Hyperparathyroidism, neonatal severe

PreTest Information

Clinical History of Patient who is going for CASR Gene Hyperparathyroidism, neonatal severe NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CASR Gene Hyperparathyroidism, neonatal severe NGS Genetic DNA Test gene CASR

Detail Description

CASR Gene Hyperparathyroidism: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Hyperparathyroidism is a condition that occurs when the parathyroid glands produce too much parathyroid hormone (PTH). This hormone regulates the level of calcium in the blood. When there is too much PTH in the blood, it can lead to high levels of calcium in the blood (hypercalcemia), which can cause a range of symptoms. One of the causes of hyperparathyroidism is a mutation in the CASR gene.

CASR Gene and Hyperparathyroidism

The CASR gene provides instructions for making a protein called the calcium-sensing receptor. This receptor is found on the surface of certain cells in the parathyroid glands and other tissues. Its function is to sense the level of calcium in the blood and adjust the production of PTH accordingly. Mutations in the CASR gene can disrupt the function of the calcium-sensing receptor, leading to overproduction of PTH and hyperparathyroidism.

Symptoms of CASR Gene Hyperparathyroidism

The symptoms of hyperparathyroidism can vary depending on the severity of the condition. Some common symptoms include:

• Fatigue
• Muscle weakness
• Bone pain
• Joint pain
• Increased thirst and urination
• Constipation
• Nausea and vomiting
• Loss of appetite

In severe cases, hyperparathyroidism can lead to kidney stones, osteoporosis, and other complications.

Diagnosis of CASR Gene Hyperparathyroidism

Hyperparathyroidism can be diagnosed through a combination of blood tests, imaging studies, and genetic testing. Blood tests can measure the levels of calcium and PTH in the blood. Imaging studies such as ultrasound, CT scan, or MRI can help locate any abnormal growths in the parathyroid glands. Genetic testing can be used to identify mutations in the CASR gene that may be causing hyperparathyroidism.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for CASR gene hyperparathyroidism in India is approximately INR 20,000. This test uses next-generation sequencing technology to analyze the DNA sequence of the CASR gene and identify any mutations that may be causing hyperparathyroidism. This test can help with accurate diagnosis and management of the condition.

Conclusion

CASR gene hyperparathyroidism is a rare genetic condition that can cause a range of symptoms. Genetic testing can help diagnose the condition and guide appropriate management. DNA Labs India offers NGS genetic DNA testing for CASR gene hyperparathyroidism at an affordable cost of INR 20,000.