GCSH Gene Glycine Encephalopathy Genetic Test
Test Components:
- 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 GCSH Gene Glycine Encephalopathy NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with GCSH Gene Glycine Encephalopathy
Test Details:
The GCSH gene is responsible for producing an enzyme called glycine cleavage system protein H, which is involved in the breakdown of the amino acid glycine in the body. Mutations in the GCSH gene can lead to a rare genetic disorder called glycine encephalopathy, also known as nonketotic hyperglycinemia.
NGS (next-generation sequencing) genetic testing is a type of genetic test that analyzes multiple genes at once using advanced sequencing technologies. NGS can be used to diagnose genetic disorders such as glycine encephalopathy by identifying mutations in the GCSH gene and other related genes.
Individuals with glycine encephalopathy may experience a range of symptoms including seizures, developmental delays, and breathing problems. Early diagnosis and treatment are important for managing the symptoms and preventing complications. Genetic testing can help identify the underlying cause of the disorder and guide appropriate treatment options.
Test Name | GCSH Gene Glycine encephalopathy 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 GCSH Gene Glycine encephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GCSH Gene Glycine encephalopathy |
Test Details | The GCSH gene is responsible for producing an enzyme called glycine cleavage system protein H, which is involved in the breakdown of the amino acid glycine in the body. Mutations in the GCSH gene can lead to a rare genetic disorder called glycine encephalopathy, also known as nonketotic hyperglycinemia. NGS (next-generation sequencing) genetic testing is a type of genetic test that analyzes multiple genes at once using advanced sequencing technologies. NGS can be used to diagnose genetic disorders such as glycine encephalopathy by identifying mutations in the GCSH gene and other related genes. Individuals with glycine encephalopathy may experience a range of symptoms including seizures, developmental delays, and breathing problems. Early diagnosis and treatment are important for managing the symptoms and preventing complications. Genetic testing can help identify the underlying cause of the disorder and guide appropriate treatment options. |