Short Description

NGS genetic DNA test detecets for variant and mutation detection in AP2S1 gene for Hypocalciuric hypercalcemia, familial type 3

PreTest Information

Clinical History of Patient who is going for AP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypocalciuric hypercalcemia, familial type 3

Detail Description

AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3 is a rare genetic disorder that affects the body's ability to regulate calcium levels. This disorder is caused by mutations in the AP2S1 gene, which is responsible for encoding a protein that helps transport calcium in the kidneys. As a result, individuals with this disorder may have abnormally high levels of calcium in their blood, which can lead to a variety of symptoms and health complications.

Symptoms of AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3

The symptoms of AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3 can vary widely from person to person. Some individuals may have no symptoms at all, while others may experience:

• Frequent urination
• Increased thirst
• Abdominal pain
• Bone pain or fractures
• Kidney stones
• Fatigue or weakness

Diagnosis of AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3

The diagnosis of AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3 typically involves a combination of medical history, physical examination, and laboratory tests. A blood test can be used to measure calcium levels in the blood, and a urine test can be used to measure the amount of calcium that is excreted in the urine. If these tests suggest that an individual may have this disorder, genetic testing can be used to confirm the diagnosis.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA Test for AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3 in India is INR 20000.

Treatment of AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3

There is currently no cure for AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3. Treatment typically focuses on managing symptoms and reducing the risk of complications. This may involve medications to help regulate calcium levels, dietary changes to reduce calcium intake, and monitoring for complications such as kidney stones or osteoporosis.

Conclusion

AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3 is a rare genetic disorder that can cause a variety of symptoms and health complications. If you or a loved one is experiencing symptoms of this disorder, it is important to speak with a healthcare provider for proper diagnosis and treatment. NGS Genetic DNA Test for AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3 can be done at DNA Labs India at a cost of INR 20000.

For more information on genetic testing and other DNA tests, contact DNA Labs India today.