Symptoms and Testing information for PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test

Symptoms and Testing information for PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test

Central Hypoventilation Syndrome (CHS), also known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. This condition is primarily caused by mutations in the PHOX2B gene. In some cases, individuals with CHS may also have Hirschsprung disease, a disorder that affects the colon and causes problems with passing stool. DNA Labs UAE offers a comprehensive genetic test for diagnosing CHS with or without Hirschsprung disease, helping families and physicians to manage and treat affected individuals more effectively.

Symptoms of PHOX2B Gene Central Hypoventilation Syndrome

The primary symptom of CHS is an inability to control breathing automatically, which becomes particularly noticeable during sleep. Affected individuals may not breathe deeply enough or may stop breathing for short periods, leading to a lack of oxygen and a buildup of carbon dioxide in the blood. This condition requires lifelong care, and symptoms may vary in severity. Some of the common symptoms include:

  • Shallow breathing or pauses in breathing during sleep (apnea)
  • Difficulty waking up or arousal from sleep
  • Bluish discoloration of the skin or lips (cyanosis) due to low oxygen levels
  • Daytime drowsiness or fatigue due to disrupted sleep patterns
  • Learning difficulties or developmental delays
  • Heart rhythm abnormalities

In addition to these respiratory symptoms, individuals with CHS and a mutation in the PHOX2B gene may also exhibit signs of Hirschsprung disease. This condition affects the large intestine (colon) and results in severe constipation or intestinal obstruction. Symptoms of Hirschsprung disease may include:

  • Swollen belly
  • Difficulty with bowel movements or failure to pass meconium within the first 48 hours of life
  • Vomiting
  • Failure to thrive or poor weight gain

Genetic Test for PHOX2B Gene Mutation

DNA Labs UAE offers a genetic test specifically designed to identify mutations in the PHOX2B gene, which are responsible for CHS and may also indicate a predisposition to Hirschsprung disease. The test involves a simple and non-invasive procedure, typically using a blood sample or cheek swab from the affected individual. This test is crucial for the accurate diagnosis and management of CHS, as it allows for targeted treatment strategies and monitoring for potential complications.

The cost of the PHOX2B gene central hypoventilation syndrome with or without Hirschsprung disease genetic test is 4400 AED. Early diagnosis and intervention are key to managing the symptoms and improving the quality of life for those affected by this condition. For more information or to schedule a test, please visit DNA Labs UAE.


Central Hypoventilation Syndrome with or without Hirschsprung disease is a complex genetic condition that can have significant impacts on an individual’s health and development. Through the use of advanced genetic testing, such as the PHOX2B gene test offered by DNA Labs UAE, families and healthcare providers can gain valuable insights into the condition. This facilitates timely and appropriate interventions, ultimately enhancing the well-being and prognosis for affected individuals. The availability of such tests underscores the importance of genetic research and testing in the diagnosis and management of rare genetic disorders.

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