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

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

-21%

The PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test is a specialized diagnostic tool available at DNA Labs UAE. Priced at 4400 AED, this test is designed to identify mutations in the PHOX2B gene, which are linked to the development of Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare genetic condition that affects the autonomic control of breathing, leading to inadequate ventilation, especially during sleep or in response to hypercapnia or hypoxia. Furthermore, mutations in the PHOX2B gene can also be associated with Hirschsprung Disease, a disorder affecting the colon’s nerve cells and leading to severe constipation or intestinal blockage.

This genetic test is crucial for early diagnosis and management of affected individuals, allowing for tailored treatment plans that can significantly improve quality of life. Conducted at DNA Labs UAE, the test involves collecting a DNA sample, typically through a blood draw or a cheek swab, and analyzing it for specific genetic variations in the PHOX2B gene. The comprehensive nature of this test, combined with the expertise at DNA Labs UAE, makes it a vital resource for families and individuals dealing with or at risk of these complex conditions.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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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.