SPATA5 Gene Epilepsy Hearing Loss and Mental Retardation Syndrome 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 SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome.
Test Details
SPATA5 gene epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) is a rare genetic disorder that affects the nervous system and causes developmental delays, intellectual disability, seizures, and hearing loss. EHLMRS is caused by mutations in the SPATA5 gene, which provides instructions for making a protein that is involved in the formation and maintenance of nerve cells.
NGS genetic testing can be used to identify mutations in the SPATA5 gene that cause EHLMRS. This type of testing uses advanced sequencing technology to analyze a patient’s DNA and identify specific genetic changes that may be responsible for their symptoms.
NGS testing for EHLMRS can help healthcare providers make an accurate diagnosis and provide appropriate treatment and support for patients and their families. It can also help identify carriers of the genetic mutation, allowing for genetic counseling and family planning.
Test Name | SPATA5 Gene Epilepsy hearing loss and mental retardation syndrome 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 SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome |
Test Details |
SPATA5 gene epilepsy, hearing loss, and mental retardation syndrome (EHLMRS) is a rare genetic disorder that affects the nervous system and causes developmental delays, intellectual disability, seizures, and hearing loss. EHLMRS is caused by mutations in the SPATA5 gene, which provides instructions for making a protein that is involved in the formation and maintenance of nerve cells. NGS genetic testing can be used to identify mutations in the SPATA5 gene that cause EHLMRS. This type of testing uses advanced sequencing technology to analyze a patient’s DNA and identify specific genetic changes that may be responsible for their symptoms. NGS testing for EHLMRS can help healthcare providers make an accurate diagnosis and provide appropriate treatment and support for patients and their families. It can also help identify carriers of the genetic mutation, allowing for genetic counseling and family planning. |