Short Description

NGS genetic DNA test detecets for variant and mutation detection in SERPINI1 gene for Encephalopathy, familial, with neuroserpin inclusion bodies

PreTest 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

Detail Description

SERPINI1 Gene Encephalopathy: Causes, Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Encephalopathy is a term used to describe a range of brain disorders that affect cognitive function, behavior, and motor skills. Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) is a rare genetic disorder that affects the brain and nervous system. It is caused by mutations in the SERPINI1 gene. The symptoms of FENIB can vary widely, but they often include seizures, cognitive impairment, and movement disorders. This blog will discuss the causes, symptoms, and diagnosis of FENIB, as well as the cost of NGS Genetic DNA testing in India.

Causes of SERPINI1 Gene Encephalopathy

FENIB is caused by mutations in the SERPINI1 gene. This gene provides instructions for making a protein called neuroserpin, which is found in the brain and helps regulate the activity of other proteins that break down certain chemicals in the brain. Mutations in the SERPINI1 gene can result in the production of an abnormal neuroserpin protein that accumulates in the brain and forms inclusion bodies. These inclusion bodies can cause damage to brain cells and lead to the symptoms of FENIB.

Symptoms of SERPINI1 Gene Encephalopathy

The symptoms of FENIB can vary widely, but they often include:

• Seizures
• Cognitive impairment
• Movement disorders
• Behavioral problems
• Speech and language difficulties
• Vision problems
• Headaches
• Depression and anxiety

The severity and progression of symptoms can also vary widely among individuals with FENIB. Some people may experience mild symptoms that do not significantly impact their daily lives, while others may have severe symptoms that require ongoing medical care.

Diagnosis of SERPINI1 Gene Encephalopathy

FENIB is diagnosed based on a combination of clinical symptoms, family history, and genetic testing. A doctor will typically perform a thorough physical and neurological exam to evaluate symptoms and rule out other possible causes. They may also order imaging tests, such as an MRI or CT scan, to look for signs of brain damage or abnormalities.

If FENIB is suspected, genetic testing can be used to confirm the diagnosis. Next-generation sequencing (NGS) DNA testing is a highly accurate and sensitive method for identifying mutations in the SERPINI1 gene. This test can detect even small genetic changes that may be missed by other types of genetic tests. The cost of NGS Genetic DNA testing in India is around INR 20,000.

Conclusion

FENIB is a rare genetic disorder that affects the brain and nervous system. It is caused by mutations in the SERPINI1 gene and can lead to a wide range of symptoms, including seizures, cognitive impairment, and movement disorders. Diagnosis of FENIB involves a combination of clinical symptoms, family history, and genetic testing. Next-generation sequencing (NGS) DNA testing is a highly accurate and sensitive method for identifying mutations in the SERPINI1 gene. If you or a loved one is experiencing symptoms of FENIB, it is important to seek medical attention and consider genetic testing to confirm the diagnosis and explore treatment options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic DNA Test