NPC1 Gene Niemann-Pick disease type C1 Genetic Test
Cost: AED 4400.0
At DNA Labs UAE, we offer the NPC1 Gene Niemann-Pick disease type C1 Genetic Test to diagnose and detect mutations in the NPC1 gene associated with Niemann-Pick disease type C1. This rare genetic disorder is characterized by the abnormal accumulation of cholesterol and other lipids in various organs and tissues.
Test Components
- Price: AED 4400.0
- 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
Prior to undergoing the NPC1 Gene Niemann-Pick disease type C1 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Niemann-Pick disease type C1.
Test Details
The NPC1 gene is responsible for producing a protein called NPC1, which plays a critical role in the transport and processing of cholesterol and other lipids within cells. Mutations in the NPC1 gene can lead to Niemann-Pick disease type C1.
NGS (Next-Generation Sequencing) genetic testing is used to analyze and sequence the DNA of an individual to identify any mutations or variations in specific genes. In the case of NPC1 gene testing, NGS can detect mutations or variants in the NPC1 gene associated with Niemann-Pick disease type C1.
This type of genetic testing is valuable for diagnosing NPC1 and providing information about specific genetic mutations present in an individual. It can also be used for carrier testing to determine if an individual carries a mutation in the NPC1 gene and is at risk of passing the condition on to their children.
NGS genetic testing for NPC1 can be performed using a blood sample or other DNA sources. The DNA is sequenced using advanced sequencing technologies, and the results are analyzed to identify any mutations or variants in the NPC1 gene.
It is important to note that genetic testing for NPC1 should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and guidance based on the results.
Test Name | NPC1 Gene Niemann-Pick disease type C1 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 NPC1 Gene Niemann-Pick disease type C1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick disease type C1 |
Test Details |
The NPC1 gene is responsible for producing a protein called NPC1, which plays a critical role in the transport and processing of cholesterol and other lipids within cells. Mutations in the NPC1 gene can lead to Niemann-Pick disease type C1 (NPC1), a rare genetic disorder characterized by the abnormal accumulation of cholesterol and other lipids in various organs and tissues. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze and sequence the DNA of an individual to identify any mutations or variations in specific genes. In the case of NPC1 gene testing, NGS can be used to detect any mutations or variants in the NPC1 gene that may be associated with Niemann-Pick disease type C1. This type of genetic testing can help in the diagnosis of NPC1 and provide valuable information about the specific genetic mutations present in an individual. It can also be used for carrier testing to determine if an individual carries a mutation in the NPC1 gene and is at risk of passing the condition on to their children. NGS genetic testing for NPC1 can be performed using a blood sample or other DNA sources. The DNA is sequenced using advanced sequencing technologies, and the results are analyzed to identify any mutations or variants in the NPC1 gene. It is important to note that genetic testing for NPC1 should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and guidance based on the results. |