Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDC73 gene for Hyperparathyroidism type 1, familial

PreTest Information

Clinical History of Patient who is going for CDC73 Gene Hyperparathyroidism type 1, familial NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDC73 Gene Hyperparathyroidism type 1, familial NGS Genetic DNA Test gene CDC73

Detail Description

CDC73 Gene Hyperparathyroidism type 1, Familial NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Hyperparathyroidism is a medical condition in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). This can lead to a range of symptoms, including bone pain, kidney stones, and fatigue. Hyperparathyroidism can be caused by a variety of factors, including genetic mutations. One such mutation is found in the CDC73 gene, which is associated with Familial Hyperparathyroidism type 1.

What is CDC73 Gene Hyperparathyroidism type 1?

Familial Hyperparathyroidism type 1 is a rare genetic disorder that is caused by a mutation in the CDC73 gene. This gene provides instructions for making a protein called parafibromin, which helps regulate the activity of the parathyroid glands. When the CDC73 gene is mutated, it can lead to the development of benign tumors in the parathyroid glands, which in turn can cause hyperparathyroidism.

Symptoms of CDC73 Gene Hyperparathyroidism type 1

The symptoms of CDC73 Gene Hyperparathyroidism type 1 are similar to those of other forms of hyperparathyroidism. These can include:

• Bone pain or tenderness
• Kidney stones
• Fatigue
• Muscle weakness
• Frequent urination
• Inability to concentrate
• Depression or irritability

Diagnosis of CDC73 Gene Hyperparathyroidism type 1

To diagnose CDC73 Gene Hyperparathyroidism type 1, a doctor may perform a blood test to measure the levels of PTH and calcium in the blood. They may also perform imaging tests, such as ultrasound or CT scans, to look for tumors in the parathyroid glands. If a genetic mutation is suspected, a DNA test may be ordered to confirm the diagnosis.

NGS Genetic DNA Test for CDC73 Gene Hyperparathyroidism type 1

A Next-Generation Sequencing (NGS) Genetic DNA Test can be used to detect mutations in the CDC73 gene. This test analyzes the DNA sequence of the gene to look for changes that may be associated with Hyperparathyroidism type 1. The cost of this test is around INR 20,000.

Conclusion

CDC73 Gene Hyperparathyroidism type 1 is a rare genetic disorder that can cause hyperparathyroidism. If you or a loved one are experiencing symptoms of hyperparathyroidism, it is important to see a doctor for diagnosis and treatment. If a genetic mutation is suspected, a Next-Generation Sequencing (NGS) Genetic DNA Test may be ordered to confirm the diagnosis.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA Test for CDC73 Gene Hyperparathyroidism type 1, at an affordable cost. Contact us today to learn more.