NAGA Gene Schindler Disease Genetic Test
Test Name: NAGA Gene Schindler Disease Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for NAGA Gene Schindler Disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Schindler disease.
What is NAGA Gene Schindler Disease?
NAGA (N-Acetylgalactosaminidase) gene Schindler disease, also known as Schindler disease type 1, is a rare genetic disorder characterized by the accumulation of a specific sugar molecule called glycolipids in various tissues of the body. This accumulation is due to a deficiency or malfunction of the NAGA enzyme, which is responsible for breaking down glycolipids.
Symptoms of NAGA Gene Schindler Disease
Symptoms of NAGA gene Schindler disease can vary widely, but they often include:
- Developmental delay
- Intellectual disability
- Seizures
- Muscle weakness
- Impaired coordination
Other possible symptoms may include liver and kidney problems, skeletal abnormalities, and vision or hearing impairment.
NGS Genetic Testing for NAGA Gene Schindler Disease
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations or variations in genes, including the NAGA gene. This test analyzes the DNA sequence of multiple genes simultaneously, providing a comprehensive view of an individual’s genetic makeup.
NGS genetic testing for NAGA gene Schindler disease can help:
- Confirm a diagnosis
- Identify carriers of the condition
- Provide valuable information for family planning and genetic counseling
- Aid in the development of personalized treatment plans and potential future therapies
It’s important to note that genetic testing for NAGA gene Schindler disease should be conducted under the guidance of a healthcare professional or genetic counselor, as the interpretation of test results and their implications can be complex.
| Test Name | NAGA Gene Schindler disease Genetic 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for NAGA Gene Schindler disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Schindler disease |
| Test Details |
NAGA (N-Acetylgalactosaminidase) gene Schindler disease, also known as Schindler disease type 1, is a rare genetic disorder characterized by the accumulation of a specific sugar molecule called glycolipids in various tissues of the body. This accumulation is due to a deficiency or malfunction of the NAGA enzyme, which is responsible for breaking down glycolipids. Symptoms of NAGA gene Schindler disease can vary widely, but they often include developmental delay, intellectual disability, seizures, muscle weakness, and impaired coordination. Other possible symptoms may include liver and kidney problems, skeletal abnormalities, and vision or hearing impairment. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations or variations in genes, including the NAGA gene. This test analyzes the DNA sequence of multiple genes simultaneously, providing a comprehensive view of an individual’s genetic makeup. NGS genetic testing for NAGA gene Schindler disease can help confirm a diagnosis, identify carriers of the condition, and provide valuable information for family planning and genetic counseling. It can also aid in the development of personalized treatment plans and potential future therapies. It’s important to note that genetic testing for NAGA gene Schindler disease should be conducted under the guidance of a healthcare professional or genetic counselor, as the interpretation of test results and their implications can be complex. |
