NPC2 Gene Niemann-Pick disease type C2 Genetic Test
Test Name: NPC2 Gene Niemann-Pick disease type C2 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 NPC2 Gene Niemann-Pick disease type C2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick disease type C2.
Test Details: The NPC2 gene is associated with Niemann-Pick disease type C2 (NPC2), which is a rare genetic disorder characterized by the accumulation of lipids (fatty substances) in various organs of the body. The NPC2 gene provides instructions for producing a protein that is involved in the transport and processing of cholesterol and other lipids within cells.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of NPC2, NGS genetic testing can identify mutations or variations in the NPC2 gene that may be responsible for causing or contributing to the development of Niemann-Pick disease type C2.
NGS genetic testing for NPC2 involves obtaining a DNA sample from an individual, usually through a blood or saliva sample. The DNA is then sequenced using NGS technologies to analyze the entire coding region of the NPC2 gene, as well as potentially other genes associated with similar conditions. The sequencing data is then analyzed and compared to a reference sequence to identify any genetic variants or mutations that may be present.
The results of the NGS genetic test for NPC2 can help in confirming a diagnosis of Niemann-Pick disease type C2 and determining the specific genetic cause of the condition in an individual. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options or clinical management.
Test Name | NPC2 Gene Niemann-Pick disease type C2 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 NPC2 Gene Niemann-Pick disease type C2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick disease type C2 |
Test Details |
The NPC2 gene is associated with Niemann-Pick disease type C2 (NPC2), which is a rare genetic disorder characterized by the accumulation of lipids (fatty substances) in various organs of the body. The NPC2 gene provides instructions for producing a protein that is involved in the transport and processing of cholesterol and other lipids within cells. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of NPC2, NGS genetic testing can identify mutations or variations in the NPC2 gene that may be responsible for causing or contributing to the development of Niemann-Pick disease type C2. NGS genetic testing for NPC2 involves obtaining a DNA sample from an individual, usually through a blood or saliva sample. The DNA is then sequenced using NGS technologies to analyze the entire coding region of the NPC2 gene, as well as potentially other genes associated with similar conditions. The sequencing data is then analyzed and compared to a reference sequence to identify any genetic variants or mutations that may be present. The results of the NGS genetic test for NPC2 can help in confirming a diagnosis of Niemann-Pick disease type C2 and determining the specific genetic cause of the condition in an individual. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options or clinical management. |