Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP24A1 gene for Hypercalcemia infantile type

PreTest Information

Clinical History of Patient who is going for CYP24A1 Gene Hypercalcemia infantile type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypercalcemia infantile type

Detail Description

CYP24A1 Gene Hypercalcemia Infantile Type NGS Genetic DNA Test

Hypercalcemia infantile type is a rare genetic disorder that is caused by mutations in the CYP24A1 gene. This gene provides instructions for making an enzyme that helps regulate the amount of calcium in the body. When this gene is mutated, it can lead to an excessive buildup of calcium in the blood, which can cause a variety of symptoms.

Symptoms of Hypercalcemia Infantile Type

The symptoms of hypercalcemia infantile type can vary, but they often include:

• Weakness and fatigue
• Poor feeding and weight gain
• Vomiting
• Dehydration
• Constipation
• Abdominal pain
• Frequent urination
• Kidney stones
• Bone pain

These symptoms can appear within the first few months of life and can be life-threatening if left untreated.

Diagnosis of Hypercalcemia Infantile Type

Hypercalcemia infantile type is diagnosed through genetic testing. The most common test used is Next Generation Sequencing (NGS) Genetic DNA Test. This test looks for mutations in the CYP24A1 gene and can identify whether a person has hypercalcemia infantile type.

Other tests that may be used to diagnose hypercalcemia infantile type include blood tests to measure calcium levels and urine tests to check for the presence of calcium and other minerals.

CYP24A1 Gene Hypercalcemia Infantile Type NGS Genetic DNA Test Cost

The cost of the CYP24A1 Gene Hypercalcemia Infantile Type NGS Genetic DNA Test in India is INR 20,000.

Treatment of Hypercalcemia Infantile Type

There is currently no cure for hypercalcemia infantile type, but the symptoms can be managed with treatment. This may include:

• Fluids and electrolytes to help restore normal calcium levels
• Medications to help lower calcium levels
• Vitamin D supplements to help regulate calcium absorption
• Genetic counseling for families affected by the disorder

Conclusion

Hypercalcemia infantile type is a rare genetic disorder that can cause a variety of symptoms, including weakness, poor feeding, vomiting, and kidney stones. It is diagnosed through genetic testing, such as Next Generation Sequencing (NGS) Genetic DNA Test, and can be managed with treatment. If you suspect that you or your child may have hypercalcemia infantile type, speak to a healthcare professional to discuss testing and treatment options.

For more information about genetic testing in India, contact DNA Labs India.