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AK2 Gene Reticular Dysgenesis Genetic Test

Name: AK2 Gene Reticular Dysgenesis Genetic Test
SKU: TEST-3239
Price: 4400 AED
Availability: InStock

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The AK2 Gene Reticular Dysgenesis Genetic Test is a specialized diagnostic procedure designed to identify mutations in the AK2 gene, which are associated with a rare and severe form of immunodeficiency known as reticular dysgenesis. This condition is characterized by a profound deficiency of granulocytes (a type of white blood cell important for fighting bacterial infections), lymphocytes (essential for immune response), and sensorineural deafness, leading to severe infections from a very early age.

The test is crucial for early diagnosis and management of the condition, allowing for appropriate treatment strategies to be implemented, which may include bone marrow transplantation among other interventions. Early detection through this genetic testing can significantly improve the prognosis by preventing severe infections and other complications associated with the disorder.

The test is conducted at DNA Labs UAE, a leading facility in genetic diagnostics that offers a comprehensive range of genetic testing services. The cost of the AK2 Gene Reticular Dysgenesis Genetic Test is 4400 AED, reflecting the specialized nature of the test and the sophisticated technology used to identify the genetic mutations accurately. This investment in the test can be invaluable for affected families in guiding treatment decisions and providing a clearer understanding of the condition’s implications.

Description

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.