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SERPINI1 Gene Encephalopathy familial with neuroserpin inclusion bodies Genetic Test

4,400 د.إ

-21%

The SERPINI1 gene encephalopathy, also known as familial encephalopathy with neuroserpin inclusion bodies (FENIB), is a rare genetic disorder characterized by the accumulation of mutant neuroserpin protein within the brain’s neurons. This accumulation leads to neuronal damage, resulting in a range of neurological symptoms such as dementia, epilepsy, and movement disorders. The condition is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene can cause the disorder.

Genetic testing for SERPINI1 gene encephalopathy is a crucial step in diagnosing this condition, enabling healthcare professionals to confirm the presence of mutations in the SERPINI1 gene that are responsible for the disease. This test involves analyzing the DNA to identify mutations in the SERPINI1 gene that lead to the abnormal production of neuroserpin.

At DNA Labs UAE, the genetic test for SERPINI1 gene encephalopathy is available, providing a vital diagnostic tool for families affected by this condition. The test cost is 4400 AED, which reflects the comprehensive analysis and the specialized expertise required to interpret the results accurately. Through this test, affected individuals and their families can gain a better understanding of their condition, enabling informed decisions regarding management and treatment options. Additionally, it can help in identifying at-risk family members who may benefit from genetic counseling and potential early intervention strategies.

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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
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.