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AGK Gene Sengers Syndrome Genetic Test

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

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Sengers Syndrome is a rare genetic disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis. It is caused by mutations in the AGK gene, which plays a crucial role in mitochondrial function and energy production within cells. The condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome.

The AGK Gene Sengers Syndrome Genetic Test is a specialized diagnostic tool designed to detect mutations in the AGK gene, confirming the diagnosis of Sengers Syndrome. This test is particularly important for families with a history of the condition or for individuals showing symptoms related to the syndrome. Early diagnosis can aid in the management of symptoms and improve the quality of life for those affected.

Conducted at DNA Labs UAE, a leading facility in genetic testing and diagnostics, the test provides a comprehensive analysis of the AGK gene for mutations associated with Sengers Syndrome. DNA Labs UAE employs advanced sequencing technologies and methodologies to ensure accurate and reliable results.

The cost of the AGK Gene Sengers Syndrome Genetic Test is 4400 AED. While the price may seem significant, the value of obtaining a precise diagnosis cannot be understated, especially for a condition as complex as Sengers Syndrome. Accurate diagnosis can facilitate targeted interventions, appropriate management strategies, and genetic counseling for affected families, helping them make informed decisions about their health and future.

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AGK Gene Sengers Syndrome Genetic Test

At DNA Labs UAE, we offer the AGK Gene Sengers Syndrome Genetic Test at a cost of 4400.0 AED. This test is used to detect mutations or variations in the AGK gene associated with Sengers syndrome, a rare genetic disorder characterized by muscle weakness, heart abnormalities, and vision problems.

Test Details

The AGK Gene Sengers Syndrome NGS genetic testing refers to the Next-Generation Sequencing (NGS) genetic test. It involves sequencing the entire AGK gene to identify any mutations or variations that may be present. This comprehensive analysis allows for the detection of both common and rare mutations.

The AGK gene provides instructions for producing an enzyme called acylglycerol kinase, which is involved in the production of cardiolipin. Cardiolipin is a type of fat molecule that is essential for the normal function of mitochondria, the energy-producing structures within cells.

Symptoms and Diagnosis

Sengers syndrome is characterized by muscle weakness, heart abnormalities, and vision problems. If an individual presents with clinical symptoms, the AGK Gene Sengers Syndrome NGS genetic test can help confirm a diagnosis.

Test Components and Sample Condition

The AGK Gene Sengers Syndrome Genetic Test requires a blood sample or extracted DNA. Alternatively, one drop of blood on an FTA card can also be used.

Report Delivery and Test Department

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test is conducted in our Genetics department.

Doctor and Pre Test Information

The AGK Gene Sengers Syndrome Genetic Test is performed by a Cardiologist. Before the test, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by AGK Gene Sengers Syndrome NGS Genetic DNA Test.

Importance of Genetic Testing and Genetic Counseling

Genetic testing can provide valuable information for family members who may be at risk of carrying the AGK gene mutation. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetic disorders. Genetic counseling is often recommended before and after testing to discuss the potential implications of the results and provide support to individuals and families.

Test Name AGK Gene Sengers 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 Cardiovascular Pneumology Disorders
Doctor Cardiologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for AGK Gene Sengers syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AGK Gene Sengers syndrome NGS Genetic DNA Test gene AGK
Test Details

AGK Gene Sengers syndrome NGS genetic testing refers to the Next-Generation Sequencing (NGS) genetic test that is used to detect mutations or variations in the AGK gene associated with Sengers syndrome.

Sengers syndrome is a rare genetic disorder characterized by muscle weakness, heart abnormalities, and vision problems. It is caused by mutations in the AGK gene, which provides instructions for producing an enzyme called acylglycerol kinase. This enzyme is involved in the production of cardiolipin, a type of fat molecule that is essential for the normal function of mitochondria, the energy-producing structures within cells.

NGS genetic testing involves sequencing the entire AGK gene to identify any mutations or variations that may be present. This technique allows for a comprehensive analysis of the gene, enabling the detection of both common and rare mutations.

The results of the AGK gene NGS genetic test can help confirm a diagnosis of Sengers syndrome in individuals with clinical symptoms and guide appropriate management and treatment options. Additionally, genetic testing can also provide valuable information for family members who may be at risk of carrying the mutation.

It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetic disorders. Genetic counseling is often recommended before and after testing to discuss the potential implications of the results and provide support to individuals and families.

SKU: TEST-3471 Category:

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