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BSCL2 Gene Encephalopathy progressive with or without lipodystrophy Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The BSCL2 gene enccephalopathy progressive with or without lipodystrophy genetic test is a specialized diagnostic tool offered by DNA Labs UAE. This test is specifically designed to detect mutations in the BSCL2 gene, which are known to cause a rare and progressive encephalopathy, often associated with lipodystrophy – a condition characterized by the abnormal distribution of fat in the body. The BSCL2 gene plays a crucial role in the development and function of the nervous system and adipose tissue. Mutations in this gene can lead to severe neurological impairment and metabolic abnormalities.

The test is conducted through a comprehensive analysis of the patient’s DNA to identify any genetic anomalies present in the BSCL2 gene. It is a critical tool for clinicians in diagnosing this condition, enabling them to provide targeted treatment and management strategies for affected individuals. Early diagnosis through genetic testing can significantly improve the quality of life for patients by addressing symptoms and preventing progression where possible.

The cost of the BSCL2 gene encephalopathy progressive with or without lipodystrophy genetic test at DNA Labs UAE is set at 4400 AED. This cost includes the full processing of the patient’s genetic material, analysis by expert geneticists, and a detailed report of the findings. Patients and healthcare providers considering this test should consult with a genetic counselor or specialist to understand its implications fully and how its results may influence medical management and family planning decisions.

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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.