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ASPA Gene Canavan Disease Genetic Test

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

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The ASPA Gene Canavan Disease Genetic Test is a specialized diagnostic tool used to identify mutations in the ASPA gene, which are responsible for Canavan disease. Canavan disease is a rare inherited disorder that causes progressive damage to nerve cells in the brain. This condition is particularly prevalent in individuals of Ashkenazi Jewish descent, but it can affect people from any ethnic background.

The test is conducted by extracting a DNA sample, typically through a blood draw or cheek swab, and analyzing it for specific genetic mutations in the ASPA gene. These mutations lead to a deficiency in the enzyme aspartoacylase, which is crucial for maintaining healthy brain tissue. The absence or malfunction of this enzyme results in the accumulation of N-acetylaspartic acid (NAA) in the brain, causing the progressive neurological symptoms observed in Canavan disease.

Offered by DNA Labs UAE, the ASPA Gene Canavan Disease Genetic Test is available for a cost of 4400 AED. DNA Labs UAE is a reputable facility known for its state-of-the-art genetic testing services. The test provides crucial information for prospective parents with a family history of Canavan disease, individuals of Ashkenazi Jewish heritage, or parents of children showing symptoms related to the disease. Early diagnosis through this genetic test can aid in management and treatment planning, although there is currently no cure for Canavan disease. The test is also an essential tool for carrier screening, allowing individuals to understand their carrier status and assess the risk of passing the condition onto their children.

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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.