Symptoms and Testing information for L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction Genetic Test

Symptoms and Testing information for L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction Genetic Test

Symptoms of L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction

Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction are severe conditions that can significantly affect an individual’s quality of life. These conditions are often linked to mutations in the L1CAM gene. Recognizing the symptoms early can lead to timely intervention, potentially improving outcomes for those affected. DNA Labs UAE offers a comprehensive genetic test for these conditions, helping families find the answers they need.

Understanding the L1CAM Gene

The L1CAM gene plays a critical role in the development of the nervous system. Mutations in this gene can lead to a range of neurological disorders, including hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. These conditions are typically inherited in an X-linked manner, meaning they predominantly affect males.

Symptoms of Hydrocephalus with Aqueductal Stenosis

Hydrocephalus with aqueductal stenosis is characterized by the buildup of cerebrospinal fluid in the brain, leading to increased pressure. Symptoms may include:

  • Enlargement of the head
  • Vomiting
  • Seizures
  • Developmental delay
  • Sleepiness
  • Poor feeding in infants

Symptoms of Congenital Intestinal Pseudoobstruction

Congenital intestinal pseudoobstruction (CIPO) is a severe disorder affecting the muscles or nerves of the intestines, leading to symptoms that resemble a blockage without any physical obstruction. Symptoms can include:

  • Abdominal pain
  • Bloating
  • Vomiting
  • Severe constipation
  • Malnutrition
  • Slow growth in children

Genetic Testing for L1CAM Gene Mutations

Genetic testing can provide valuable information for families affected by these conditions. DNA Labs UAE offers a specialized test for the L1CAM gene mutations associated with hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. This test can confirm a diagnosis, guide treatment decisions, and offer insights into the risk of passing the condition to future generations.

Test Cost

The cost of the L1CAM gene hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction genetic test is 4400 AED. While the cost may seem high, the insights gained from this test can be invaluable for affected families, potentially leading to more effective treatments and management strategies.

Conclusion

Understanding the symptoms of L1CAM gene-related conditions is crucial for early diagnosis and treatment. DNA Labs UAE is committed to providing comprehensive genetic testing services to help families navigate these challenging conditions. For more information about the L1CAM gene hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction genetic test, visit our website.

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