ATP7A Gene Menkes Disease Genetic Test
At DNA Labs UAE, we offer the ATP7A Gene Menkes disease genetic test. This test helps in diagnosing Menkes disease, a rare genetic disorder primarily affecting males. The test analyzes the ATP7A gene and identifies any mutations or variations that may be present.
Test Components and Price
The ATP7A Gene Menkes disease genetic test costs 4400.0 AED. The sample condition required for the test includes blood or extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
The report for the ATP7A Gene Menkes disease genetic test is delivered within 3 to 4 weeks. The test is conducted using Next-Generation Sequencing (NGS) technology.
Test Type and Doctor
The ATP7A Gene Menkes disease genetic test falls under the category of Hepatology, Nephrology, and Endocrinology disorders. It is recommended to consult with a General Physician for this test.
Test Department and Pre-Test Information
The ATP7A Gene Menkes disease genetic test is conducted in the Genetics department. Before undergoing the test, it is essential to provide the clinical history of the patient. Additionally, a Genetic Counselling session is conducted to draw a pedigree chart of family members affected by ATP7A Gene Menkes disease.
Test Details
The ATP7A gene is responsible for producing a protein called copper-transporting ATPase 1 (ATP7A). This protein plays a crucial role in transporting copper within the body. Mutations in the ATP7A gene can lead to Menkes disease, a rare genetic disorder.
Menkes disease is characterized by a defect in copper absorption and transport, resulting in copper deficiency in various tissues and organs. This deficiency affects the development of the brain, bones, and other parts of the body.
The ATP7A Gene Menkes disease genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the ATP7A gene and identify any mutations or variations. NGS genetic testing allows for the simultaneous analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders like Menkes disease.
NGS genetic testing involves sequencing the DNA of an individual to identify any changes or mutations in specific genes. In the case of Menkes disease, the ATP7A gene is analyzed to look for any mutations causing the disorder. Identifying the specific mutation in the ATP7A gene helps confirm a diagnosis of Menkes disease.
Furthermore, the information obtained from the ATP7A Gene Menkes disease genetic test can be used for genetic counseling and family planning purposes. It is crucial to note that genetic testing should be performed by healthcare professionals specializing in genetics and genetic disorders. They can provide appropriate counseling and guidance based on the test results.
| Test Name | ATP7A Gene Menkes disease 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 | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ATP7A Gene Menkes disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP7A Gene Menkes disease NGS Genetic DNA Test gene ATP7A |
| Test Details |
The ATP7A gene is responsible for producing a protein called copper-transporting ATPase 1 (ATP7A). This protein plays a crucial role in transporting copper within the body. Mutations in the ATP7A gene can lead to a rare genetic disorder known as Menkes disease. Menkes disease is an X-linked recessive disorder that primarily affects males. It is characterized by a defect in copper absorption and transport, leading to copper deficiency in various tissues and organs. This deficiency affects the development of the brain, bones, and other parts of the body. Next-generation sequencing (NGS) genetic testing can be used to analyze the ATP7A gene and identify any mutations or variations that may be present. This type of testing allows for the simultaneous analysis of multiple genes, making it a powerful tool for diagnosing genetic disorders like Menkes disease. NGS genetic testing involves sequencing the DNA of an individual to identify any changes or mutations in specific genes. In the case of Menkes disease, the ATP7A gene would be analyzed to look for any mutations that may be causing the disorder. By identifying the specific mutation in the ATP7A gene, NGS genetic testing can help confirm a diagnosis of Menkes disease. This information can also be used for genetic counseling and family planning purposes. It is important to note that genetic testing should be performed by healthcare professionals who specialize in genetics and genetic disorders. They can provide appropriate counseling and guidance based on the test results. |
