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EGLN1 Gene Erythrocytosis Familial Type 3 Genetic Test

Name: EGLN1 Gene Erythrocytosis Familial Type 3 Genetic Test
SKU: TEST-3899
Price: 4400 AED
Availability: InStock

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

-21%

The EGLN1 gene plays a critical role in how the body responds to oxygen levels, and mutations in this gene can lead to Erythrocytosis Familial Type 3, a rare condition characterized by an abnormal increase in the number of red blood cells. This can lead to various symptoms, including headaches, dizziness, and an increased risk of blood clots. Early diagnosis and management are crucial to mitigate these risks.

DNA Labs UAE offers a genetic test specifically designed to detect mutations in the EGLN1 gene associated with Erythrocytosis Familial Type 3. This test is a valuable tool for individuals with a family history of the condition or those exhibiting symptoms, providing them with crucial information about their genetic health. The cost of the test is 4400 AED, reflecting the specialized analysis and the comprehensive nature of the genetic insights it provides. Conducted in a state-of-the-art facility, the test results are delivered with accuracy and precision, offering a reliable basis for diagnosis and further medical consultation.

Description

EGLN1 Gene Erythrocytosis familial type 3 Genetic Test

Components: EGLN1 Gene Erythrocytosis familial type 3 Genetic Test

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 EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic DNA Test gene EGLN1

Test Details:

EGLN1 gene erythrocytosis, familial type 3 is a genetic condition characterized by an increased number of red blood cells (erythrocytosis). This condition is caused by mutations in the EGLN1 gene, which provides instructions for making a protein called prolyl hydroxylase domain-containing protein 2 (PHD2). PHD2 plays a crucial role in regulating the production of red blood cells. It acts as an oxygen sensor, detecting low oxygen levels in the body. When oxygen levels are low, PHD2 activates a signaling pathway that stimulates the production of erythropoietin (EPO), a hormone that promotes the production of red blood cells. Mutations in the EGLN1 gene disrupt the normal function of PHD2, leading to the overproduction of red blood cells even when oxygen levels are normal. This results in erythrocytosis, which can cause symptoms such as fatigue, headache, dizziness, and increased blood viscosity.

NGS genetic testing can be used to identify mutations in the EGLN1 gene that are associated with familial type 3 erythrocytosis. This type of genetic testing involves sequencing the DNA of an individual to detect specific genetic variations or mutations. By identifying the specific mutation in the EGLN1 gene, NGS testing can provide a definitive diagnosis for individuals with familial type 3 erythrocytosis. Genetic testing can also help in determining the inheritance pattern of the condition, as familial type 3 erythrocytosis is typically inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutation to each of their children. NGS genetic testing for EGLN1 gene erythrocytosis can be useful in diagnosing affected individuals, providing genetic counseling, and guiding treatment decisions. Treatment options for this condition may include phlebotomy (removal of blood to reduce red blood cell count), medications that suppress EPO production, or other interventions to manage symptoms and reduce the risk of complications associated with erythrocytosis.

Test Name	EGLN1 Gene Erythrocytosis familial type 3 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 EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic DNA Test gene EGLN1
Test Details	EGLN1 gene erythrocytosis, familial type 3 is a genetic condition characterized by an increased number of red blood cells (erythrocytosis). This condition is caused by mutations in the EGLN1 gene, which provides instructions for making a protein called prolyl hydroxylase domain-containing protein 2 (PHD2). PHD2 plays a crucial role in regulating the production of red blood cells. It acts as an oxygen sensor, detecting low oxygen levels in the body. When oxygen levels are low, PHD2 activates a signaling pathway that stimulates the production of erythropoietin (EPO), a hormone that promotes the production of red blood cells. Mutations in the EGLN1 gene disrupt the normal function of PHD2, leading to the overproduction of red blood cells even when oxygen levels are normal. This results in erythrocytosis, which can cause symptoms such as fatigue, headache, dizziness, and increased blood viscosity. NGS genetic testing can be used to identify mutations in the EGLN1 gene that are associated with familial type 3 erythrocytosis. This type of genetic testing involves sequencing the DNA of an individual to detect specific genetic variations or mutations. By identifying the specific mutation in the EGLN1 gene, NGS testing can provide a definitive diagnosis for individuals with familial type 3 erythrocytosis. Genetic testing can also help in determining the inheritance pattern of the condition, as familial type 3 erythrocytosis is typically inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutation to each of their children. NGS genetic testing for EGLN1 gene erythrocytosis can be useful in diagnosing affected individuals, providing genetic counseling, and guiding treatment decisions. Treatment options for this condition may include phlebotomy (removal of blood to reduce red blood cell count), medications that suppress EPO production, or other interventions to manage symptoms and reduce the risk of complications associated with erythrocytosis.