SMAD4 Gene Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome 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: Cancer
Doctor: Oncologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for SMAD4 Gene Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMAD4 Gene Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome NGS Genetic DNA Test gene SMAD4.
Test Details
The SMAD4 gene is associated with a rare genetic disorder called juvenile polyposis/hereditary hemorrhagic telangiectasia (JP/HHT) syndrome. This syndrome is characterized by the development of multiple polyps in the gastrointestinal tract, particularly in the colon and rectum. It is also associated with abnormal blood vessel formation, leading to telangiectasias (small, dilated blood vessels) on the skin and mucous membranes.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations or variations in the SMAD4 gene. This test involves sequencing the entire coding region of the gene to detect any abnormalities. NGS technology allows for the simultaneous analysis of multiple genes or even the entire genome, making it a powerful tool for diagnosing genetic disorders.
In the context of JP/HHT syndrome, NGS genetic testing can help identify individuals who have mutations in the SMAD4 gene, confirming the diagnosis of the syndrome. It can also be used for genetic counseling and to provide information about the risk of passing on the condition to future generations.
Test Name | SMAD4 Gene Juvenile polyposishereditary hemorrhagic telangiectasia syndrome 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 | Cancer |
Doctor | Oncologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for SMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic DNA Test gene SMAD4 |
Test Details |
The SMAD4 gene is associated with a rare genetic disorder called juvenile polyposis/hereditary hemorrhagic telangiectasia (JP/HHT) syndrome. This syndrome is characterized by the development of multiple polyps in the gastrointestinal tract, particularly in the colon and rectum. It is also associated with abnormal blood vessel formation, leading to telangiectasias (small, dilated blood vessels) on the skin and mucous membranes. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations or variations in the SMAD4 gene. This test involves sequencing the entire coding region of the gene to detect any abnormalities. NGS technology allows for the simultaneous analysis of multiple genes or even the entire genome, making it a powerful tool for diagnosing genetic disorders. In the context of JP/HHT syndrome, NGS genetic testing can help identify individuals who have mutations in the SMAD4 gene, confirming the diagnosis of the syndrome. It can also be used for genetic counseling and to provide information about the risk of passing on the condition to future generations. |