CASR Gene Hypocalcemia Autosomal Dominant with Bartter Syndrome Genetic Test
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Test Name: CASR Gene Hypocalcemia Autosomal Dominant with Bartter Syndrome Genetic Test
- Components: CASR gene hypocalcemia, autosomal dominant, with Bartter syndrome
- 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: Hepatology Nephrology Endocrinology Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information
Before undergoing the CASR Gene Hypocalcemia autosomal dominant with Bartter syndrome genetic test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by CASR Gene Hypocalcemia autosomal dominant with Bartter syndrome genetic test gene CASR.
Test Details
CASR gene hypocalcemia, autosomal dominant, with Bartter syndrome is a genetic disorder characterized by low levels of calcium in the blood (hypocalcemia), autosomal dominant inheritance pattern, and features of Bartter syndrome. Bartter syndrome is a group of rare genetic disorders that affect the kidneys’ ability to reabsorb salt and maintain the body’s balance of potassium, sodium, chloride, and other electrolytes. It is characterized by excessive urine production (polyuria), dehydration, electrolyte imbalances, and kidney abnormalities.
The CASR gene provides instructions for making a protein called the calcium-sensing receptor, which is involved in regulating the levels of calcium in the blood. Mutations in the CASR gene can disrupt the normal function of the calcium-sensing receptor, leading to decreased sensitivity to calcium levels and resulting in hypocalcemia.
The inheritance pattern of CASR gene hypocalcemia, autosomal dominant, with Bartter syndrome means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. If a parent has the condition, there is a 50% chance of passing it on to each child.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of CASR gene hypocalcemia, autosomal dominant, with Bartter syndrome, NGS genetic testing can identify mutations in the CASR gene that are responsible for the condition. This type of testing can help with diagnosis, genetic counseling, and family planning.
| Test Name | CASR Gene Hypocalcemia autosomal dominant with Bartter syndrome 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 | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
CASR gene hypocalcemia, autosomal dominant, with Bartter syndrome is a genetic disorder characterized by low levels of calcium in the blood (hypocalcemia), autosomal dominant inheritance pattern, and features of Bartter syndrome. Bartter syndrome is a group of rare genetic disorders that affect the kidneys’ ability to reabsorb salt and maintain the body’s balance of potassium, sodium, chloride, and other electrolytes. It is characterized by excessive urine production (polyuria), dehydration, electrolyte imbalances, and kidney abnormalities. The CASR gene provides instructions for making a protein called the calcium-sensing receptor, which is involved in regulating the levels of calcium in the blood. Mutations in the CASR gene can disrupt the normal function of the calcium-sensing receptor, leading to decreased sensitivity to calcium levels and resulting in hypocalcemia. The inheritance pattern of CASR gene hypocalcemia, autosomal dominant, with Bartter syndrome means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. If a parent has the condition, there is a 50% chance of passing it on to each child. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of CASR gene hypocalcemia, autosomal dominant, with Bartter syndrome, NGS genetic testing can identify mutations in the CASR gene that are responsible for the condition. This type of testing can help with diagnosis, genetic counseling, and family planning. |
