ELANE Gene Neutropenia severe congenital type 1 Genetic Test
At DNA Labs UAE, we offer the ELANE Gene Neutropenia severe congenital type 1 Genetic Test. This test analyzes the ELANE gene for mutations associated with severe congenital neutropenia type 1, a rare genetic disorder characterized by a severe decrease in the number of neutrophils, a type of white blood cell that helps fight infections.
Test Details
The ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic Test is a type of genetic test that utilizes NGS (Next-Generation Sequencing) technology to analyze the ELANE gene for potential disease-causing mutations. The ELANE gene provides instructions for making an enzyme called neutrophil elastase, which is crucial for the maturation and function of neutrophils. Mutations in the ELANE gene can lead to a reduction in neutrophil elastase activity, resulting in impaired neutrophil production and function.
By identifying specific mutations in the ELANE gene, this test can help confirm a diagnosis of severe congenital neutropenia type 1 and guide appropriate management and treatment options. It is important to note that this genetic test is typically ordered by a healthcare provider and performed in a specialized laboratory.
Test Components and Price
The ELANE Gene Neutropenia severe congenital type 1 Genetic Test is priced at 4400.0 AED. The test can be conducted using blood or extracted DNA, or with just one drop of blood on an FTA Card.
Report Delivery and Method
The report for the ELANE Gene Neutropenia severe congenital type 1 Genetic Test is typically delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology for analysis.
Test Type and Doctor
The ELANE Gene Neutropenia severe congenital type 1 Genetic Test falls under the category of Hematology tests and is usually ordered by a Hematologist.
Test Department
This genetic test is conducted in the Genetics department of our laboratory.
Pre Test Information
Before undergoing the ELANE Gene Neutropenia severe congenital type 1 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic DNA Test gene ELANE.
The ELANE Gene Neutropenia severe congenital type 1 Genetic Test is a valuable tool for both diagnosis and genetic counseling. It provides important information that can aid in the management and treatment of severe congenital neutropenia type 1.
Test Name | ELANE Gene Neutropenia severe congenital type 1 Genetic Test |
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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 ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic DNA Test gene ELANE |
Test Details |
ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic Test is a type of genetic test that analyzes the ELANE gene for mutations associated with severe congenital neutropenia type 1. Severe congenital neutropenia is a rare genetic disorder characterized by a severe decrease in the number of neutrophils, a type of white blood cell that helps fight infections. The ELANE gene provides instructions for making an enzyme called neutrophil elastase, which is important for the maturation and function of neutrophils. Mutations in the ELANE gene can lead to a reduction in neutrophil elastase activity, resulting in impaired neutrophil production and function. The NGS (Next-Generation Sequencing) technique used in this genetic test allows for the simultaneous analysis of multiple genes, including the ELANE gene, to identify potential disease-causing mutations. By identifying specific mutations in the ELANE gene, this test can help confirm a diagnosis of severe congenital neutropenia type 1 and guide appropriate management and treatment options. It is important to note that this genetic test is typically ordered by a healthcare provider and performed in a specialized laboratory. The test may involve obtaining a blood sample from the individual being tested, which is then sent to the laboratory for analysis. The results of the test can provide valuable information for both diagnosis and genetic counseling. |