PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test
Components
Test Name: PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease 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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease.
Test Details
Central hypoventilation syndrome with or without Hirschsprung disease (CCHS) is a rare genetic disorder that affects the autonomic nervous system, which controls involuntary body functions such as breathing and heart rate. CCHS is caused by mutations in the PHOX2B gene, which provides instructions for making a protein that is important for the development and function of certain nerve cells.
NGS genetic testing is a type of genetic testing that uses next-generation sequencing technology to analyze multiple genes at once. This can be useful for diagnosing rare genetic disorders like CCHS, which may be caused by mutations in multiple genes. The PHOX2B gene can be included in a panel of genes analyzed by NGS testing to confirm a diagnosis of CCHS.
Early diagnosis and management of CCHS is important to prevent complications such as respiratory failure and sudden death. Treatment may involve mechanical ventilation, medication to stimulate breathing, and surgery to correct Hirschsprung disease if present. Genetic counseling may also be recommended for affected individuals and their families.
| Test Name | PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease |
| Test Details |
Central hypoventilation syndrome with or without Hirschsprung disease (CCHS) is a rare genetic disorder that affects the autonomic nervous system, which controls involuntary body functions such as breathing and heart rate. CCHS is caused by mutations in the PHOX2B gene, which provides instructions for making a protein that is important for the development and function of certain nerve cells. NGS genetic testing is a type of genetic testing that uses next-generation sequencing technology to analyze multiple genes at once. This can be useful for diagnosing rare genetic disorders like CCHS, which may be caused by mutations in multiple genes. The PHOX2B gene can be included in a panel of genes analyzed by NGS testing to confirm a diagnosis of CCHS. Early diagnosis and management of CCHS is important to prevent complications such as respiratory failure and sudden death. Treatment may involve mechanical ventilation, medication to stimulate breathing, and surgery to correct Hirschsprung disease if present. Genetic counseling may also be recommended for affected individuals and their families. |
