AP4B1 Gene SPG47 Genetic Test
Cost: 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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for AP4B1 Gene SPG47 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP4B1 Gene SPG47.
Test Details
The AP4B1 gene is associated with a rare genetic disorder called spastic paraplegia type 47 (SPG47). This disorder is characterized by progressive muscle stiffness and weakness in the lower limbs, which can lead to difficulty walking and eventually wheelchair dependence.
An NGS (Next-Generation Sequencing) genetic test can be used to analyze the AP4B1 gene and identify any variations or mutations that may be present. This test involves sequencing the DNA of an individual to determine the specific genetic code of the AP4B1 gene. Any mutations or variations in this gene can then be identified and analyzed to determine if they are likely to be causing the symptoms of SPG47.
NGS genetic tests are highly accurate and can provide detailed information about an individual’s genetic makeup. They can help in confirming a diagnosis of SPG47 and can also be used for carrier testing in individuals with a family history of the disorder. Additionally, NGS testing can be used for prenatal diagnosis in families at risk of having a child with SPG47.
It is important to note that genetic testing for SPG47 should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support throughout the testing process.
Test Name | AP4B1 Gene SPG47 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 AP4B1 Gene SPG47 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AP4B1 Gene SPG47 |
Test Details |
The AP4B1 gene is associated with a rare genetic disorder called spastic paraplegia type 47 (SPG47). This disorder is characterized by progressive muscle stiffness and weakness in the lower limbs, which can lead to difficulty walking and eventually wheelchair dependence. An NGS (Next-Generation Sequencing) genetic test can be used to analyze the AP4B1 gene and identify any variations or mutations that may be present. This test involves sequencing the DNA of an individual to determine the specific genetic code of the AP4B1 gene. Any mutations or variations in this gene can then be identified and analyzed to determine if they are likely to be causing the symptoms of SPG47. NGS genetic tests are highly accurate and can provide detailed information about an individual’s genetic makeup. They can help in confirming a diagnosis of SPG47 and can also be used for carrier testing in individuals with a family history of the disorder. Additionally, NGS testing can be used for prenatal diagnosis in families at risk of having a child with SPG47. It is important to note that genetic testing for SPG47 should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and support throughout the testing process. |