SERPINI1 Gene Encephalopathy familial with neuroserpin inclusion bodies Genetic Test
Test Name: SERPINI1 Gene Encephalopathy familial with neuroserpin inclusion bodies 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 SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies.
Test Details
The SERPINI1 gene encodes the protein neuroserpin, which is involved in the regulation of neuronal proteases. Mutations in the SERPINI1 gene have been associated with a rare autosomal dominant disorder called Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB). This disorder is characterized by progressive cognitive decline, seizures, and movement disorders.
NGS genetic testing for FENIB involves sequencing the SERPINI1 gene to identify any mutations or variants that may be causing the disorder. This type of testing can help confirm a diagnosis of FENIB and may also be useful for genetic counseling and family planning.
It is important to note that while genetic testing can provide valuable information, it is not a guarantee of disease development or severity. Other factors, such as environmental and lifestyle factors, may also play a role in the development and progression of FENIB.
Test Name | SERPINI1 Gene Encephalopathy familial with neuroserpin inclusion bodies Genetic Test |
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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 SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies |
Test Details |
The SERPINI1 gene encodes the protein neuroserpin, which is involved in the regulation of neuronal proteases. Mutations in the SERPINI1 gene have been associated with a rare autosomal dominant disorder called Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB). This disorder is characterized by progressive cognitive decline, seizures, and movement disorders. NGS genetic testing for FENIB involves sequencing the SERPINI1 gene to identify any mutations or variants that may be causing the disorder. This type of testing can help confirm a diagnosis of FENIB and may also be useful for genetic counseling and family planning. It is important to note that while genetic testing can provide valuable information, it is not a guarantee of disease development or severity. Other factors, such as environmental and lifestyle factors, may also play a role in the development and progression of FENIB. |