SMN1 Gene Spinal Muscular Atrophy Type 2 Genetic Test
Test Name: SMN1 Gene Spinal muscular atrophy type 2 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 SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMN1 Gene Spinal muscular atrophy type 2.
Test Details:
The SMN1 gene is responsible for producing a protein called survival motor neuron (SMN) that is essential for the survival of motor neurons. Spinal muscular atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord, leading to muscle weakness and atrophy. Spinal muscular atrophy type 2 (SMA2) is a milder form of SMA that typically presents in early childhood. It is characterized by muscle weakness and motor function impairment, but individuals with SMA2 are usually able to sit without support and may eventually be able to stand and walk with assistance.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the simultaneous analysis of multiple genes or the entire genome. In the context of SMA2, NGS genetic testing can be used to identify mutations or variations in the SMN1 gene that are associated with the condition. This type of genetic testing can help confirm a diagnosis of SMA2, provide information about the specific genetic variant causing the condition, and determine the carrier status of family members. It can also be used for genetic counseling and family planning purposes.
It is important to note that while NGS genetic testing can be highly accurate, it may not detect all possible mutations or variations in the SMN1 gene. Therefore, a negative test result does not completely rule out the possibility of SMA2. Additionally, other genetic and clinical factors may also contribute to the development and severity of the condition.
Test Name | SMN1 Gene Spinal muscular atrophy type 2 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 SMN1 Gene Spinal muscular atrophy type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SMN1 Gene Spinal muscular atrophy type 2 |
Test Details |
The SMN1 gene is responsible for producing a protein called survival motor neuron (SMN) that is essential for the survival of motor neurons. Spinal muscular atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord, leading to muscle weakness and atrophy. Spinal muscular atrophy type 2 (SMA2) is a milder form of SMA that typically presents in early childhood. It is characterized by muscle weakness and motor function impairment, but individuals with SMA2 are usually able to sit without support and may eventually be able to stand and walk with assistance. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the simultaneous analysis of multiple genes or the entire genome. In the context of SMA2, NGS genetic testing can be used to identify mutations or variations in the SMN1 gene that are associated with the condition. This type of genetic testing can help confirm a diagnosis of SMA2, provide information about the specific genetic variant causing the condition, and determine the carrier status of family members. It can also be used for genetic counseling and family planning purposes. It is important to note that while NGS genetic testing can be highly accurate, it may not detect all possible mutations or variations in the SMN1 gene. Therefore, a negative test result does not completely rule out the possibility of SMA2. Additionally, other genetic and clinical factors may also contribute to the development and severity of the condition. |