MPL Gene Thrombocytopenia congenital amegakaryocytic Genetic Test
Test Name: MPL Gene Thrombocytopenia congenital amegakaryocytic Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test type: Hematology
Doctor: Hematologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic DNA Test gene MPL
Test Details
MPL gene thrombocytopenia is a rare genetic disorder characterized by a low platelet count (thrombocytopenia) due to mutations in the MPL gene. The MPL gene provides instructions for making a protein called the thrombopoietin receptor, which is involved in the production and maturation of platelets in the bone marrow.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a specific form of MPL gene thrombocytopenia. It is an inherited disorder that affects the production of platelets, leading to a severe decrease in their numbers. Individuals with CAMT typically present with low platelet counts, increased bleeding tendencies, and an absence or reduction in the number of large bone marrow cells called megakaryocytes.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for mutations or variations that may be associated with a particular disorder. In the case of MPL gene thrombocytopenia or CAMT, NGS genetic testing can be performed to identify mutations in the MPL gene that may be responsible for the condition.
The NGS genetic test involves obtaining a DNA sample, typically through a blood sample, from the individual being tested. The DNA is then sequenced using advanced sequencing technology to analyze the entire coding region of the MPL gene. The results of the test can help confirm a diagnosis of MPL gene thrombocytopenia or CAMT and provide information about the specific genetic mutation present.
Genetic testing for MPL gene thrombocytopenia or CAMT can be beneficial for individuals and their families in several ways. It can help with accurate diagnosis, guide treatment decisions, provide information about the risk of passing the condition to future generations, and assist in genetic counseling.
It is important to note that NGS genetic testing is typically performed by specialized laboratories and requires a healthcare professional’s involvement to interpret the results accurately and provide appropriate counseling.
| Test Name | MPL Gene Thrombocytopenia congenital amegakaryocytic 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 | Hematology |
| Doctor | Hematologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic DNA Test gene MPL |
| Test Details |
MPL gene thrombocytopenia is a rare genetic disorder characterized by a low platelet count (thrombocytopenia) due to mutations in the MPL gene. The MPL gene provides instructions for making a protein called the thrombopoietin receptor, which is involved in the production and maturation of platelets in the bone marrow. Congenital amegakaryocytic thrombocytopenia (CAMT) is a specific form of MPL gene thrombocytopenia. It is an inherited disorder that affects the production of platelets, leading to a severe decrease in their numbers. Individuals with CAMT typically present with low platelet counts, increased bleeding tendencies, and an absence or reduction in the number of large bone marrow cells called megakaryocytes. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for mutations or variations that may be associated with a particular disorder. In the case of MPL gene thrombocytopenia or CAMT, NGS genetic testing can be performed to identify mutations in the MPL gene that may be responsible for the condition. The NGS genetic test involves obtaining a DNA sample, typically through a blood sample, from the individual being tested. The DNA is then sequenced using advanced sequencing technology to analyze the entire coding region of the MPL gene. The results of the test can help confirm a diagnosis of MPL gene thrombocytopenia or CAMT and provide information about the specific genetic mutation present. Genetic testing for MPL gene thrombocytopenia or CAMT can be beneficial for individuals and their families in several ways. It can help with accurate diagnosis, guide treatment decisions, provide information about the risk of passing the condition to future generations, and assist in genetic counseling. It is important to note that NGS genetic testing is typically performed by specialized laboratories and requires a healthcare professional’s involvement to interpret the results accurately and provide appropriate counseling. |
