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PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test Cost

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

-21%

The PHOX2B gene plays a critical role in the development of the nervous system, and mutations in this gene are known to cause Congenital Central Hypoventilation Syndrome (CCHS), a rare disorder affecting respiratory control, with or without Hirschsprung disease, which impacts the bowel. The genetic test for identifying mutations in the PHOX2B gene is crucial for diagnosing individuals suspected of having CCHS, potentially with Hirschsprung disease.

This test, available at DNA Labs UAE, is priced at 4400 AED. It involves analyzing the patient’s DNA to detect abnormalities in the PHOX2B gene that are indicative of the syndrome. Early detection through this genetic testing is vital for the management and treatment of the condition, allowing for tailored care plans that address the unique needs of each affected individual. Given the complexity of the syndromes associated with PHOX2B mutations, this test is an invaluable tool for healthcare providers and families seeking answers to respiratory and gastrointestinal symptoms present from a young age.

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PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test

Are you or a loved one experiencing symptoms of Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse? DNA Labs UAE offers a comprehensive genetic test to diagnose PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease.

Test Details

The PHOX2B gene is associated with a rare genetic disorder called Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse. This disorder primarily affects the autonomic control of breathing, resulting in hypoventilation during sleep. CCHS can occur either with or without Hirschsprung disease, which is a condition characterized by the absence of nerve cells in the colon, leading to difficulty in passing stool.

Our genetic test, using Next-Generation Sequencing (NGS) technology, allows for the analysis of multiple genes simultaneously, providing a comprehensive evaluation of genetic variants. In the case of CCHS with or without Hirschsprung disease, NGS can be used to identify mutations or variants in the PHOX2B gene that are associated with the disorder.

This genetic test not only helps in confirming the diagnosis of CCHS but also plays a crucial role in genetic counseling, family planning, and determining the risk of passing on the disorder to future generations.

Test Components

  • Test Name: PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test
  • Price: AED 4400.0
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Cardiovascular Pneumology Disorders
  • Doctor: Cardiologist
  • Test Department: Genetics

Pre Test Information

Before undergoing the PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease 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 the disorder.

Genetic counseling is a valuable resource for individuals and families dealing with genetic disorders. It helps in understanding the inheritance pattern, risks, and options available for family planning.

Conclusion

If you suspect that you or a family member may have Congenital Central Hypoventilation Syndrome with or without Hirschsprung Disease, our PHOX2B Gene Genetic Test can provide the necessary information for an accurate diagnosis. Early detection and intervention can significantly improve the quality of life for individuals affected by this rare genetic disorder.

Contact DNA Labs UAE today to schedule your PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test and take a step towards better health and understanding.

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
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Cardiovascular Pneumology Disorders
Doctor Cardiologist
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 NGS Genetic DNA Test gene PHOX2B
Test Details

The PHOX2B gene is associated with a rare genetic disorder called Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse. This disorder primarily affects the autonomic control of breathing, resulting in hypoventilation during sleep.

CCHS can occur either with or without Hirschsprung disease, which is a condition characterized by the absence of nerve cells in the colon, leading to difficulty in passing stool.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, providing a comprehensive evaluation of genetic variants. In the case of CCHS with or without Hirschsprung disease, NGS can be used to identify mutations or variants in the PHOX2B gene that are associated with the disorder.

This genetic test helps in confirming the diagnosis of CCHS and can also be used for genetic counseling, family planning, and determining the risk of passing on the disorder to future generations.

SKU: TEST-3417 Category:

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