GATA2 Gene Emberger Syndrome Genetic Test
At DNA Labs UAE, we offer the GATA2 Gene Emberger Syndrome Genetic Test at a cost of 4400.0 AED. This test is designed to diagnose Emberger syndrome, a rare genetic disorder caused by mutations in the GATA2 gene.
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: Osteology Dermatology Immunology Disorders
- Doctor: Dermatologist
- Test Department: Genetics
Pre Test Information
Prior to the GATA2 Gene Emberger Syndrome Genetic Test, it is important to gather the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by GATA2 Gene Emberger Syndrome.
Test Details
The GATA2 gene is responsible for producing a protein called GATA-binding protein 2. This protein plays a crucial role in the development and function of immune cells, blood cells, and endothelial cells. Emberger syndrome, also known as MonoMAC syndrome, is a rare genetic disorder caused by mutations in the GATA2 gene.
Emberger syndrome is characterized by a reduced number of immune cells, particularly monocytes, which are a type of white blood cell. Individuals with this syndrome are also more susceptible to infections, myelodysplastic syndrome (a group of blood cell production disorders), and acute myeloid leukemia (a type of blood cancer).
NGS (Next-Generation Sequencing) genetic testing is a highly advanced method that allows for the analysis of multiple genes or even the entire genome. It uses cutting-edge sequencing technologies to rapidly and accurately sequence DNA.
The GATA2 Gene Emberger Syndrome Genetic Test utilizes NGS genetic testing to identify mutations in the GATA2 gene associated with Emberger syndrome. This helps confirm a diagnosis and guide treatment decisions. The test involves obtaining a DNA sample, typically through a blood sample or cheek swab, and subjecting it to NGS analysis. The sequencing data is then analyzed to identify any mutations or variations in the GATA2 gene.
This test is beneficial for individuals with a suspected or confirmed diagnosis of Emberger syndrome, as well as their family members who may be at risk of inheriting the mutation. It provides a definitive diagnosis, informs genetic counseling, and assists in developing personalized treatment plans.
Test Name | GATA2 Gene Emberger 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 | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for GATA2 Gene Emberger syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA2 Gene Emberger syndrome NGS Genetic DNA Test gene GATA2 |
Test Details |
The GATA2 gene is a gene that provides instructions for making a protein called GATA-binding protein 2. This protein plays a crucial role in the development and function of several cell types, including immune cells, blood cells, and endothelial cells. Emberger syndrome, also known as MonoMAC syndrome, is a rare genetic disorder caused by mutations in the GATA2 gene. This condition is characterized by a reduced number of immune cells, particularly a type of white blood cell called monocytes, as well as a predisposition to infections, myelodysplastic syndrome (a group of disorders that affect the production of blood cells), and acute myeloid leukemia (a type of blood cancer). NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or even the entire genome. It uses advanced sequencing technologies to rapidly and accurately sequence DNA. NGS genetic testing can be used to identify mutations in the GATA2 gene associated with Emberger syndrome, helping to confirm a diagnosis and guide treatment decisions. This type of genetic testing involves obtaining a DNA sample, typically through a blood sample or cheek swab, and then subjecting the DNA to NGS analysis. The sequencing data is then analyzed to identify any mutations or variations in the GATA2 gene. NGS genetic testing for Emberger syndrome can be useful for individuals with a suspected or confirmed diagnosis of the condition, as well as their family members who may be at risk of inheriting the mutation. It can help provide a definitive diagnosis, inform genetic counseling, and assist in personalized treatment plans. |