AP5Z1 Gene SPG48 Genetic Test
Test Name: AP5Z1 Gene SPG48 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for AP5Z1 Gene SPG48 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AP5Z1 Gene SPG48
Test Details
The AP5Z1 gene is associated with a specific form of hereditary spastic paraplegia (HSP) known as SPG48. HSP is a group of inherited neurological disorders characterized by progressive weakness and stiffness of the legs (paraplegia) due to degeneration of the corticospinal tract, which is responsible for controlling muscle movement.
The NGS genetic test for SPG48 aims to identify mutations or variations in the AP5Z1 gene that may be responsible for causing the condition. NGS stands for next-generation sequencing, which is a high-throughput technology used to analyze DNA sequences quickly and accurately.
This genetic test can be used to confirm a diagnosis of SPG48 in individuals with symptoms suggestive of the condition. It can also be used for carrier testing in individuals with a family history of SPG48, as the condition is inherited in an autosomal recessive manner, meaning that both copies of the AP5Z1 gene must be affected for the disease to manifest.
By identifying the specific genetic cause of SPG48, NGS genetic testing can provide valuable information for genetic counseling, family planning, and potential future therapeutic interventions. It is important to consult with a healthcare professional or genetic counselor for further information and guidance regarding this genetic test.
Test Name | AP5Z1 Gene SPG48 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 AP5Z1 Gene SPG48 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AP5Z1 Gene SPG48 |
Test Details |
The AP5Z1 gene is associated with a specific form of hereditary spastic paraplegia (HSP) known as SPG48. HSP is a group of inherited neurological disorders characterized by progressive weakness and stiffness of the legs (paraplegia) due to degeneration of the corticospinal tract, which is responsible for controlling muscle movement. The NGS genetic test for SPG48 aims to identify mutations or variations in the AP5Z1 gene that may be responsible for causing the condition. NGS stands for next-generation sequencing, which is a high-throughput technology used to analyze DNA sequences quickly and accurately. This genetic test can be used to confirm a diagnosis of SPG48 in individuals with symptoms suggestive of the condition. It can also be used for carrier testing in individuals with a family history of SPG48, as the condition is inherited in an autosomal recessive manner, meaning that both copies of the AP5Z1 gene must be affected for the disease to manifest. By identifying the specific genetic cause of SPG48, NGS genetic testing can provide valuable information for genetic counseling, family planning, and potential future therapeutic interventions. It is important to consult with a healthcare professional or genetic counselor for further information and guidance regarding this genetic test. |