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ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test

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

-21%

The ASCL1 gene plays a critical role in the development and function of the autonomic nervous system, which controls involuntary actions such as breathing. Mutations in the ASCL1 gene can lead to Congenital Central Hypoventilation Syndrome (CCHS), a rare genetic disorder characterized by the failure to automatically control breathing. This means affected individuals do not adequately ventilate, especially during sleep, leading to a risk of hypoventilation (underbreathing), which can result in life-threatening complications.

To diagnose this condition, genetic testing of the ASCL1 gene can be conducted. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the ASCL1 gene that are associated with Congenital Central Hypoventilation Syndrome. This test is crucial for the accurate diagnosis and management of the condition, allowing for appropriate treatment and monitoring strategies to be implemented, enhancing the quality of life for affected individuals.

The cost of the ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the genetic analysis and professional interpretation of the results, ensuring that patients and their families receive accurate and actionable information. This test is an essential tool in the management of CCHS, providing a clear genetic diagnosis that can guide treatment decisions and support family planning considerations.

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ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test

Genetic testing for the ASCL1 gene is available at DNA Labs UAE. This test is specifically designed to detect mutations in the ASCL1 gene, which is associated with central hypoventilation syndrome, congenital (CCHS). CCHS is a rare genetic disorder that affects the control of breathing.

Test Details

The ASCL1 gene is responsible for the development and function of certain nerve cells in the brainstem that control breathing. Mutations in this gene can lead to difficulties in breathing during sleep and waking hours for individuals with CCHS.

NGS (Next-generation sequencing) technology is used for this genetic test. NGS allows for the analysis of multiple genes simultaneously, providing a more comprehensive and accurate assessment of DNA changes. This advanced technology can detect even small changes in DNA that may be missed by traditional genetic testing methods.

Test Components and Price

The cost of the ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test at DNA Labs UAE is 4400.0 AED.

Sample Condition and Report Delivery

The test requires a blood sample or extracted DNA. Alternatively, one drop of blood can be collected on an FTA card. The report will be delivered within 3 to 4 weeks.

Test Type and Doctor

The ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist for this test.

Test Department and Pre Test Information

The test is conducted in the Genetics department. Prior to the test, it is advised to provide the clinical history of the patient who is going for the ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with ASCL1 Gene Central Hypoventilation Syndrome Congenital.

Benefits of Genetic Testing for CCHS

Genetic testing for CCHS can provide several benefits:

  • Confirmation of diagnosis
  • Identification of carriers of the gene mutation
  • Information about the risk of passing the mutation on to future generations
  • Guidance for medical management and treatment decisions

Overall, the ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing and managing CCHS. It utilizes advanced NGS technology to provide accurate and comprehensive results.

Test Name ASCL1 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 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 ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASCL1 Gene Central hypoventilation syndrome, congenital
Test Details

The ASCL1 gene is associated with central hypoventilation syndrome, congenital (CCHS), which is a rare genetic disorder that affects the control of breathing. Individuals with CCHS have difficulty breathing during sleep and may also have breathing problems during waking hours. This disorder is caused by mutations in the ASCL1 gene, which provides instructions for making a protein that is involved in the development and function of certain nerve cells in the brainstem that control breathing.

NGS (Next-generation sequencing) genetic testing can be used to detect mutations in the ASCL1 gene. This type of testing uses advanced technology to analyze multiple genes simultaneously and can detect even small changes in DNA that may be missed by traditional genetic testing methods.

Genetic testing for CCHS can help confirm a diagnosis, identify carriers of the gene mutation, and provide information about the risk of passing the mutation on to future generations. It can also help guide medical management and treatment decisions for individuals with CCHS.