CYP24A1 Gene Hypercalcemia infantile type Genetic Test
Components: CYP24A1 gene hypercalcemia infantile type NGS genetic test
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test 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.
Test Details
The CYP24A1 gene hypercalcemia infantile type NGS genetic test is a genetic test that analyzes the CYP24A1 gene for mutations that are associated with hypercalcemia in infants. Hypercalcemia is a condition characterized by high levels of calcium in the blood, which can lead to various symptoms and complications.
The CYP24A1 gene provides instructions for producing an enzyme called 25-hydroxyvitamin D 24-hydroxylase, which plays a crucial role in regulating calcium levels in the body. Mutations in the CYP24A1 gene can impair the function of this enzyme, leading to an imbalance in calcium levels and causing hypercalcemia.
NGS (Next-Generation Sequencing) technology is used in this genetic test to analyze the entire coding region of the CYP24A1 gene. This advanced sequencing technique allows for the detection of various types of mutations, including small insertions, deletions, and single nucleotide variants.
By identifying mutations in the CYP24A1 gene, this genetic test can help in the diagnosis and management of hypercalcemia in infants. It can also provide information about the inheritance pattern of the condition, allowing for genetic counseling and family planning.
It is important to note that this genetic test is typically ordered by healthcare professionals who specialize in genetics or endocrinology. The results of the test should be interpreted by a qualified healthcare provider who can provide appropriate counseling and guidance based on the individual’s specific situation.
Test Name | CYP24A1 Gene Hypercalcemia infantile type Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
CYP24A1 gene hypercalcemia infantile type NGS genetic test is a genetic test that analyzes the CYP24A1 gene for mutations that are associated with hypercalcemia in infants. Hypercalcemia is a condition characterized by high levels of calcium in the blood, which can lead to various symptoms and complications. The CYP24A1 gene provides instructions for producing an enzyme called 25-hydroxyvitamin D 24-hydroxylase, which plays a crucial role in regulating calcium levels in the body. Mutations in the CYP24A1 gene can impair the function of this enzyme, leading to an imbalance in calcium levels and causing hypercalcemia. NGS (Next-Generation Sequencing) technology is used in this genetic test to analyze the entire coding region of the CYP24A1 gene. This advanced sequencing technique allows for the detection of various types of mutations, including small insertions, deletions, and single nucleotide variants. By identifying mutations in the CYP24A1 gene, this genetic test can help in the diagnosis and management of hypercalcemia in infants. It can also provide information about the inheritance pattern of the condition, allowing for genetic counseling and family planning. It is important to note that this genetic test is typically ordered by healthcare professionals who specialize in genetics or endocrinology. The results of the test should be interpreted by a qualified healthcare provider who can provide appropriate counseling and guidance based on the individual’s specific situation. |