SPART Gene SPG20 Genetic Test
Test Name: SPART Gene SPG20 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 SPART Gene SPG20 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPART Gene SPG20.
Test Details
The SPART gene, also known as SPG20, is a gene that provides instructions for making a protein called spartin. Mutations in the SPG20 gene have been associated with a rare genetic disorder called Troyer syndrome or hereditary spastic paraplegia type 20 (HSP20). Troyer syndrome is characterized by progressive muscle stiffness and weakness in the legs (spastic paraplegia), intellectual disability, speech difficulties, and other neurological symptoms. The severity of the condition can vary widely, even among affected individuals within the same family.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to rapidly and accurately sequence the DNA or RNA of an individual. It allows for the simultaneous analysis of multiple genes, including the SPG20 gene, in a single test. NGS genetic testing for the SPG20 gene can be used to identify mutations or variants in the gene that may be causing Troyer syndrome or other related conditions. This information can help with the diagnosis of the condition, provide information about the inheritance pattern, and guide appropriate medical management and genetic counseling for affected individuals and their families.
It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support.
Test Name | SPART Gene SPG20 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 SPART Gene SPG20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPART Gene SPG20 |
Test Details |
The SPART gene, also known as SPG20, is a gene that provides instructions for making a protein called spartin. Mutations in the SPG20 gene have been associated with a rare genetic disorder called Troyer syndrome or hereditary spastic paraplegia type 20 (HSP20). Troyer syndrome is characterized by progressive muscle stiffness and weakness in the legs (spastic paraplegia), intellectual disability, speech difficulties, and other neurological symptoms. The severity of the condition can vary widely, even among affected individuals within the same family. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to rapidly and accurately sequence the DNA or RNA of an individual. It allows for the simultaneous analysis of multiple genes, including the SPG20 gene, in a single test. NGS genetic testing for the SPG20 gene can be used to identify mutations or variants in the gene that may be causing Troyer syndrome or other related conditions. This information can help with the diagnosis of the condition, provide information about the inheritance pattern, and guide appropriate medical management and genetic counseling for affected individuals and their families. It is important to note that genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |