Short Description

NGS genetic DNA test detecets for variant and mutation detection in CASR gene for Hypocalcemia, autosomal dominant, with Bartter syndrome

PreTest Information

Clinical History of Patient who is going for CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic DNA Test gene CASR

Detail Description

CASR Gene Hypocalcemia: Autosomal Dominant with Bartter Syndrome NGS Genetic DNA Test

DNA Labs India now offers a comprehensive genetic test for CASR gene hypocalcemia, autosomal dominant with Bartter syndrome. This test uses Next Generation Sequencing (NGS) technology to analyze the entire CASR gene and provide a detailed report on any genetic mutations that may be present.

What is CASR Gene Hypocalcemia with Bartter Syndrome?

CASR gene hypocalcemia, autosomal dominant with Bartter syndrome is a rare genetic disorder that affects the regulation of calcium and potassium in the body. This disorder is caused by mutations in the CASR gene, which provides instructions for making a protein called the calcium-sensing receptor. The calcium-sensing receptor helps to regulate calcium levels in the body by signaling the parathyroid gland to release or stop producing parathyroid hormone.

In individuals with CASR gene hypocalcemia with Bartter syndrome, the calcium-sensing receptor is not functioning properly, resulting in low levels of calcium in the blood (hypocalcemia) and high levels of potassium in the urine (hyperkalemia). This can lead to a variety of symptoms, including muscle cramps, weakness, fatigue, and kidney problems.

Symptoms

The symptoms of CASR gene hypocalcemia with Bartter syndrome can vary from person to person and may include:

• Muscle cramps
• Weakness
• Fatigue
• Kidney problems
• Abdominal pain
• Nausea and vomiting
• Bone pain
• Difficulty breathing
• Irregular heartbeat

Diagnosis

Diagnosis of CASR gene hypocalcemia with Bartter syndrome can be difficult, as the symptoms can be similar to those of other conditions. However, a genetic test can provide a definitive diagnosis by identifying any mutations in the CASR gene.

The NGS genetic DNA test offered by DNA Labs India is a highly accurate and reliable test that can detect even the smallest genetic mutations. This test is non-invasive and requires only a small blood or saliva sample to be collected.

NGS Genetic DNA Test Cost

The cost of the CASR gene hypocalcemia with Bartter syndrome NGS genetic DNA test is INR 20,000. This includes the cost of sample collection, testing, and a detailed report of the results.

Conclusion

CASR gene hypocalcemia with Bartter syndrome is a rare genetic disorder that can cause a variety of symptoms. If you or someone you know is experiencing any of the symptoms listed above, it is important to speak with a healthcare provider to determine if genetic testing is necessary.

The NGS genetic DNA test offered by DNA Labs India is a highly accurate and reliable test that can provide a definitive diagnosis of CASR gene hypocalcemia with Bartter syndrome. Contact DNA Labs India today to learn more about this test and how it can help you or your loved one get the answers you need.