ZEB2 Gene Central Hypoventilation Syndrome Congenital 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: Dysmorphology
- Doctor: Pediatrics
- Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for ZEB2 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ZEB2 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic DNA Test gene ZEB2.
Test Details
ZEB2 gene central hypoventilation syndrome, congenital (CHS) is a rare genetic disorder that affects the autonomic control of breathing. It is also known as congenital central hypoventilation syndrome (CCHS) or Ondine’s curse. CHS is typically caused by mutations in the ZEB2 gene, which is responsible for producing a protein called zinc finger E-box-binding homeobox 2. This protein plays a crucial role in the development and function of the autonomic nervous system, particularly the regulation of breathing.
Individuals with CHS have difficulty sensing low levels of oxygen and high levels of carbon dioxide in their blood. As a result, they may not experience the normal urge to breathe during sleep or when sedated, leading to hypoventilation (reduced breathing) and low oxygen levels in the body.
NGS genetic testing, also known as next-generation sequencing, is a powerful diagnostic tool used to identify genetic mutations associated with various disorders, including CHS. This test involves sequencing the DNA of an individual to detect any variations or mutations in the ZEB2 gene that may be causing the condition.
By identifying the specific genetic mutation, NGS genetic testing can provide a definitive diagnosis of CHS and help guide treatment and management strategies. It can also assist in genetic counseling and family planning by determining the likelihood of passing on the condition to future generations.
It’s important to note that NGS genetic testing is typically performed by healthcare professionals who specialize in genetics or genetic counseling. The results should be interpreted and discussed with a healthcare provider to ensure accurate diagnosis and appropriate management of CHS.
| Test Name | ZEB2 Gene Central hypoventilation syndrome congenital 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 | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene ZEB2 |
| Test Details | ZEB2 gene central hypoventilation syndrome, congenital (CHS) is a rare genetic disorder that affects the autonomic control of breathing. It is also known as congenital central hypoventilation syndrome (CCHS) or Ondine’s curse. CHS is typically caused by mutations in the ZEB2 gene, which is responsible for producing a protein called zinc finger E-box-binding homeobox 2. This protein plays a crucial role in the development and function of the autonomic nervous system, particularly the regulation of breathing. Individuals with CHS have difficulty sensing low levels of oxygen and high levels of carbon dioxide in their blood. As a result, they may not experience the normal urge to breathe during sleep or when sedated, leading to hypoventilation (reduced breathing) and low oxygen levels in the body. NGS genetic testing, also known as next-generation sequencing, is a powerful diagnostic tool used to identify genetic mutations associated with various disorders, including CHS. This test involves sequencing the DNA of an individual to detect any variations or mutations in the ZEB2 gene that may be causing the condition. By identifying the specific genetic mutation, NGS genetic testing can provide a definitive diagnosis of CHS and help guide treatment and management strategies. It can also assist in genetic counseling and family planning by determining the likelihood of passing on the condition to future generations. It’s important to note that NGS genetic testing is typically performed by healthcare professionals who specialize in genetics or genetic counseling. The results should be interpreted and discussed with a healthcare provider to ensure accurate diagnosis and appropriate management of CHS. |
