BSCL2 Gene Encephalopathy Progressive with or without Lipodystrophy Genetic Test
Welcome to DNA Labs UAE, where we offer the BSCL2 Gene Encephalopathy Progressive with or without Lipodystrophy Genetic Test. This test is designed to diagnose and manage BSCL2 gene encephalopathy, a rare genetic disorder that affects the nervous system and causes progressive neurological symptoms.
Test Details
BSCL2 gene encephalopathy, also known as Silver syndrome, is a rare genetic disorder that affects the nervous system and causes progressive neurological symptoms, including muscle weakness, difficulty walking, and cognitive impairment. Lipodystrophy, or abnormal fat distribution, may also be present in some cases.
The BSCL2 gene provides instructions for making a protein called seipin, which is involved in the formation and maintenance of adipose tissue (fat) and the nervous system. Mutations in the BSCL2 gene can disrupt the normal function of seipin, leading to the symptoms of BSCL2 gene encephalopathy.
NGS genetic testing can be used to identify mutations in the BSCL2 gene and confirm a diagnosis of BSCL2 gene encephalopathy. This type of testing analyzes the entire gene sequence, rather than just specific regions, allowing for the detection of rare or novel mutations.
Early diagnosis and management of BSCL2 gene encephalopathy can improve outcomes and quality of life for affected individuals. Treatment may involve physical therapy, medications to manage symptoms, and supportive care.
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
Prior to undergoing the BSCL2 Gene Encephalopathy Progressive with or without Lipodystrophy Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy.
For more information or to schedule an appointment, please contact our Genetics Test Department.
| Test Name | BSCL2 Gene Encephalopathy progressive with or without lipodystrophy 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 BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy |
| Test Details |
BSCL2 gene encephalopathy, also known as Silver syndrome, is a rare genetic disorder that affects the nervous system and causes progressive neurological symptoms, including muscle weakness, difficulty walking, and cognitive impairment. Lipodystrophy, or abnormal fat distribution, may also be present in some cases. The BSCL2 gene provides instructions for making a protein called seipin, which is involved in the formation and maintenance of adipose tissue (fat) and the nervous system. Mutations in the BSCL2 gene can disrupt the normal function of seipin, leading to the symptoms of BSCL2 gene encephalopathy. NGS genetic testing can be used to identify mutations in the BSCL2 gene and confirm a diagnosis of BSCL2 gene encephalopathy. This type of testing analyzes the entire gene sequence, rather than just specific regions, allowing for the detection of rare or novel mutations. Early diagnosis and management of BSCL2 gene encephalopathy can improve outcomes and quality of life for affected individuals. Treatment may involve physical therapy, medications to manage symptoms, and supportive care. |
