ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test
Welcome to DNA Labs UAE, where we offer the ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test. This test is designed to diagnose a rare genetic disorder known as Central Hypoventilation Syndrome (CCHS), which affects the autonomic control of breathing.
Test Components and Price
The ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology.
Test Type and Doctor
The ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test falls under the category of Cardiovascular Pneumology Disorders. It is recommended to consult with a Cardiologist for this test.
Test Department and Pre-Test Information
The ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test is conducted in our Genetics department. Before undergoing the 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 ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test gene ASCL1.
Test Details
ASCL1 Gene Central Hypoventilation Syndrome Congenital (CCHS) is a rare genetic disorder that affects the autonomic control of breathing. It is characterized by a decreased sensitivity to carbon dioxide, resulting in inadequate ventilation during sleep and wakefulness. Symptoms of CCHS include cyanosis, hypoventilation, and potentially life-threatening respiratory arrest.
Next-generation sequencing (NGS) genetic testing is used to identify mutations or variations in the ASCL1 gene associated with CCHS. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic changes that may be responsible for the disorder.
The ASCL1 gene produces a protein called achaete-scute homolog 1, which plays a crucial role in the development and function of neurons involved in breathing regulation. Mutations in the ASCL1 gene disrupt the normal functioning of these neurons, leading to the symptoms of CCHS.
NGS genetic testing can confirm a diagnosis of CCHS by identifying specific mutations in the ASCL1 gene. This information is important for guiding patient management, predicting symptom severity, informing treatment decisions, and providing valuable information for genetic counseling.
Summary
In summary, the ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS genetic test is a diagnostic tool used to identify mutations in the ASCL1 gene associated with CCHS. This information is crucial for proper management and genetic counseling for individuals with this rare genetic disorder.
| 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 |
| 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 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 NGS Genetic DNA Test gene ASCL1 |
| Test Details | ASCL1 Gene Central hypoventilation syndrome, congenital (CCHS) is a rare genetic disorder that affects the autonomic control of breathing. It is characterized by a decreased sensitivity to carbon dioxide, leading to inadequate ventilation during sleep and, in some cases, during wakefulness as well. This can result in episodes of cyanosis (bluish discoloration of the skin), hypoventilation, and potentially life-threatening respiratory arrest. Next-generation sequencing (NGS) genetic testing is a diagnostic tool used to identify mutations or variations in the ASCL1 gene that are associated with CCHS. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of genetic changes that may be responsible for the disorder. The ASCL1 gene provides instructions for producing a protein called achaete-scute homolog 1, which plays a crucial role in the development and function of neurons involved in breathing regulation. Mutations in the ASCL1 gene disrupt the normal functioning of these neurons, leading to the symptoms of CCHS. NGS genetic testing can help confirm a diagnosis of CCHS by identifying specific mutations in the ASCL1 gene. This information is important for guiding patient management, as it can help predict the severity of symptoms, inform treatment decisions, and provide valuable information for genetic counseling. In summary, ASCL1 Gene Central hypoventilation syndrome, congenital NGS genetic testing is a diagnostic tool used to identify mutations in the ASCL1 gene associated with CCHS. This information is crucial for proper management and genetic counseling for individuals with this rare genetic disorder. |
