ASPA Gene Canavan Disease Genetic Test
Genetic testing plays a crucial role in diagnosing and understanding various genetic disorders. One such disorder is Canavan disease, which is caused by mutations in the ASPA gene. At DNA Labs UAE, we offer the ASPA Gene Canavan Disease Genetic Test to provide early diagnosis and genetic counseling for affected individuals and their families.
Test Components and Price
The ASPA Gene Canavan Disease 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 Test Method
The test results are delivered within 3 to 4 weeks. The ASPA Gene Canavan Disease Genetic Test utilizes NGS (Next Generation Sequencing) technology, which allows for faster and more comprehensive testing by analyzing multiple genes at once.
Test Type and Doctor
The ASPA Gene Canavan Disease Genetic Test falls under the category of Neurological Disorders. It is recommended to consult with a Neurologist before undergoing the test.
Test Department and Pre-Test Information
The ASPA Gene Canavan Disease Genetic Test is conducted in our Genetics department. Before the test, it is important to provide the clinical history of the patient who is going for the test. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected with ASPA Gene Canavan disease.
About Canavan Disease and the ASPA Gene
Canavan disease is a rare genetic disorder caused by mutations in the ASPA gene. The ASPA gene is responsible for producing an enzyme called aspartoacylase, which plays a crucial role in breaking down a molecule called N-acetylaspartate (NAA) in the brain.
In individuals with Canavan disease, the mutations in the ASPA gene lead to a deficiency of aspartoacylase and a buildup of NAA in the brain. This buildup causes damage to the white matter of the brain, resulting in developmental delays, seizures, and ultimately, death.
Advantages of NGS Technology
NGS (Next Generation Sequencing) genetic testing is a powerful tool that enables the analysis of multiple genes simultaneously. This technology allows for faster and more comprehensive testing, making it highly beneficial for diagnosing genetic disorders like Canavan disease.
Conclusion
The ASPA Gene Canavan Disease Genetic Test offered at DNA Labs UAE provides a comprehensive analysis of the ASPA gene mutations associated with Canavan disease. Early diagnosis and genetic counseling through this test can help affected individuals and their families in understanding and managing the condition more effectively.
Test Name | ASPA Gene Canavan 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 ASPA Gene Canavan disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASPA Gene Canavan disease |
Test Details |
The ASPA gene is responsible for producing an enzyme called aspartoacylase, which is involved in breaking down a molecule called N-acetylaspartate (NAA) in the brain. Canavan disease is a rare genetic disorder caused by mutations in the ASPA gene, which leads to a deficiency of aspartoacylase and a buildup of NAA in the brain. This buildup causes damage to the white matter of the brain, leading to developmental delays, seizures, and eventually death. NGS (Next Generation Sequencing) genetic testing is a type of DNA sequencing that can analyze multiple genes at once, allowing for faster and more comprehensive testing. NGS testing can be used to identify mutations in the ASPA gene associated with Canavan disease, allowing for early diagnosis and genetic counseling for affected individuals and their families. |