VPS54 Gene Amyotrophic Lateral Sclerosis VPS54 Related Genetic Test
Test Name: VPS54 Gene Amyotrophic lateral sclerosis VPS54 related 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 VPS54 Gene Amyotrophic lateral sclerosis, VPS54 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VPS54 Gene Amyotrophic lateral sclerosis, VPS54 related.
Test Details
The VPS54 gene is associated with a rare form of Amyotrophic Lateral Sclerosis (ALS) called VPS54-related ALS. This genetic disorder is characterized by progressive muscle weakness and atrophy, spasticity, and difficulty with speech and swallowing. The disease usually begins in early adulthood and progresses rapidly, leading to respiratory failure and death within a few years.
NGS genetic testing can identify mutations in the VPS54 gene that cause VPS54-related ALS. This type of testing involves sequencing the entire coding region of the gene to identify any changes or variations that may be responsible for the disease. NGS testing can also be used to identify carriers of the mutation who may be at risk of passing the disease on to their children.
Early diagnosis of VPS54-related ALS is important for effective management of the disease. Genetic testing can help identify individuals who are at risk for the disease and allow for early intervention and treatment. It can also provide important information for family planning and genetic counseling.
Test Name | VPS54 Gene Amyotrophic lateral sclerosis VPS54 related 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 VPS54 Gene Amyotrophic lateral sclerosis, VPS54 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VPS54 Gene Amyotrophic lateral sclerosis, VPS54 related |
Test Details |
The VPS54 gene is associated with a rare form of Amyotrophic Lateral Sclerosis (ALS) called VPS54-related ALS. This genetic disorder is characterized by progressive muscle weakness and atrophy, spasticity, and difficulty with speech and swallowing. The disease usually begins in early adulthood and progresses rapidly, leading to respiratory failure and death within a few years. NGS genetic testing can identify mutations in the VPS54 gene that cause VPS54-related ALS. This type of testing involves sequencing the entire coding region of the gene to identify any changes or variations that may be responsible for the disease. NGS testing can also be used to identify carriers of the mutation who may be at risk of passing the disease on to their children. Early diagnosis of VPS54-related ALS is important for effective management of the disease. Genetic testing can help identify individuals who are at risk for the disease and allow for early intervention and treatment. It can also provide important information for family planning and genetic counseling. |