CYP2U1 Gene SPG56 Genetic Test
Cost: 4400.0 AED
Test Details
The CYP2U1 gene is associated with a condition called SPG56, which stands for Spastic Paraplegia Type 56. This genetic test uses Next-Generation Sequencing (NGS) technology to analyze the DNA sequence of the CYP2U1 gene and identify any variations or mutations that may be present.
SPG56 is a rare genetic disorder characterized by progressive stiffness and weakness in the legs (spastic paraplegia), leading to difficulty walking. Other symptoms may include muscle wasting, difficulty with balance, and, in some cases, intellectual disability or developmental delay.
The NGS genetic test for the CYP2U1 gene can help confirm a diagnosis of SPG56 in individuals with symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of SPG56 or for prenatal testing in couples at risk of having a child with the condition.
The test involves collecting a DNA sample, typically through a blood or saliva sample, and then sequencing the CYP2U1 gene using NGS technology. The resulting DNA sequence is compared to a reference sequence to identify any variations or mutations. If a mutation or variation is identified in the CYP2U1 gene, it can help confirm a diagnosis of SPG56.
Genetic counseling may be recommended to help individuals understand the implications of the test results and discuss any family planning or treatment options.
It is important to note that this genetic test specifically analyzes the CYP2U1 gene and is not a comprehensive genetic test for all possible causes of spastic paraplegia. Other genes may also be involved in the development of this condition, and additional testing may be needed to identify any additional genetic factors.
Test Information
- Components: CYP2U1 Gene SPG56 Genetic Test
- 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 CYP2U1 Gene SPG56 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYP2U1 Gene SPG56.
Test Name | CYP2U1 Gene SPG56 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 CYP2U1 Gene SPG56 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CYP2U1 Gene SPG56 |
Test Details |
The CYP2U1 gene is associated with a condition called SPG56, which stands for Spastic Paraplegia Type 56. This genetic test uses Next-Generation Sequencing (NGS) technology to analyze the DNA sequence of the CYP2U1 gene and identify any variations or mutations that may be present. SPG56 is a rare genetic disorder characterized by progressive stiffness and weakness in the legs (spastic paraplegia), leading to difficulty walking. Other symptoms may include muscle wasting, difficulty with balance, and, in some cases, intellectual disability or developmental delay. The NGS genetic test for the CYP2U1 gene can help confirm a diagnosis of SPG56 in individuals with symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of SPG56 or for prenatal testing in couples at risk of having a child with the condition. The test involves collecting a DNA sample, typically through a blood or saliva sample, and then sequencing the CYP2U1 gene using NGS technology. The resulting DNA sequence is compared to a reference sequence to identify any variations or mutations. If a mutation or variation is identified in the CYP2U1 gene, it can help confirm a diagnosis of SPG56. Genetic counseling may be recommended to help individuals understand the implications of the test results and discuss any family planning or treatment options. It is important to note that this genetic test specifically analyzes the CYP2U1 gene and is not a comprehensive genetic test for all possible causes of spastic paraplegia. Other genes may also be involved in the development of this condition, and additional testing may be needed to identify any additional genetic factors. |