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ZEB2 Gene Central Hypoventilation Syndrome Congenital Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The “ZEB2 Gene Central Hypoventilation Syndrome Congenital Genetic Test” is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the ZEB2 gene, which are linked to Mowat-Wilson Syndrome. This condition is characterized by a range of symptoms, including Hirschsprung disease, distinctive facial features, intellectual disability, and, in some cases, congenital central hypoventilation syndrome (CCHS). CCHS is a serious respiratory disorder that impairs autonomic control of breathing, necessitating lifelong respiratory support during sleep for affected individuals.

This genetic test is crucial for early diagnosis and management of the syndrome, enabling tailored care and interventions that can significantly improve the quality of life for individuals with the condition. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the lab for the presence of specific mutations in the ZEB2 gene.

The cost of the test at DNA Labs UAE is 4400 AED, reflecting the specialized nature of the analysis and the profound impact that the results can have on the management of affected individuals and their families. Early and accurate diagnosis through this test can facilitate appropriate genetic counseling, guide medical management, and help families prepare for the unique needs of individuals with Mowat-Wilson Syndrome.

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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.