AK2 Gene Reticular Dysgenesis Genetic Test
Test Name: AK2 Gene Reticular dysgenesis Genetic Test
Components: AK2 gene sequencing
Price: 4400.0 AED
Sample Condition: Blood
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 AK2 Gene Reticular dysgenesis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AK2 Gene Reticular dysgenesis NGS Genetic DNA Test gene AK2
Test Details: The AK2 gene is responsible for encoding the enzyme adenylate kinase 2, which plays a crucial role in energy metabolism by catalyzing the conversion of adenine nucleotides. Mutations in the AK2 gene can lead to a rare genetic disorder called reticular dysgenesis. Reticular dysgenesis is a severe form of combined immunodeficiency disorder characterized by the absence or severe reduction of all types of blood cells, including white blood cells, red blood cells, and platelets. This condition usually presents in infancy and is associated with recurrent infections, hearing loss, and bone marrow failure.
NGS (Next-Generation Sequencing) genetic testing is a high-throughput method used to sequence multiple genes simultaneously. In the context of reticular dysgenesis, NGS genetic testing can identify mutations in the AK2 gene, allowing for an accurate diagnosis of the condition. Genetic testing can be beneficial for individuals suspected to have reticular dysgenesis as it can provide a definitive diagnosis, guide treatment decisions, and offer valuable information for family planning. It is typically performed using a blood or saliva sample, and the results are interpreted by geneticists or genetic counselors.
Test Name | AK2 Gene Reticular dysgenesis Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood |
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 AK2 Gene Reticular dysgenesis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AK2 Gene Reticular dysgenesis NGS Genetic DNA Test gene AK2 |
Test Details |
The AK2 gene is responsible for encoding the enzyme adenylate kinase 2, which plays a crucial role in energy metabolism by catalyzing the conversion of adenine nucleotides. Mutations in the AK2 gene can lead to a rare genetic disorder called reticular dysgenesis. Reticular dysgenesis is a severe form of combined immunodeficiency disorder characterized by the absence or severe reduction of all types of blood cells, including white blood cells, red blood cells, and platelets. This condition usually presents in infancy and is associated with recurrent infections, hearing loss, and bone marrow failure. NGS (Next-Generation Sequencing) genetic testing is a high-throughput method used to sequence multiple genes simultaneously. In the context of reticular dysgenesis, NGS genetic testing can identify mutations in the AK2 gene, allowing for an accurate diagnosis of the condition. Genetic testing can be beneficial for individuals suspected to have reticular dysgenesis as it can provide a definitive diagnosis, guide treatment decisions, and offer valuable information for family planning. It is typically performed using a blood or saliva sample, and the results are interpreted by geneticists or genetic counselors. |