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PC Gene Pyruvate Carboxylase Deficiency Genetic Test Cost

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

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PC Gene Pyruvate Carboxylase Deficiency Genetic Test at DNA Labs UAE

The PC Gene Pyruvate Carboxylase Deficiency Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to detect mutations in the PC gene, which are indicative of Pyruvate Carboxylase Deficiency (PCD). PCD is a rare metabolic disorder that impairs the body’s ability to convert carbohydrates and proteins into energy, leading to a buildup of lactic acid and a range of severe neurological symptoms. Early diagnosis through genetic testing can be crucial for managing symptoms and improving the quality of life for affected individuals.

This test is meticulously conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring high accuracy and reliability of results. The cost of the test is set at 4400 AED, reflecting the comprehensive nature of the analysis and the expertise involved in interpreting the genetic data. By opting for this genetic test, patients and their families can gain valuable insights into their genetic makeup, empowering them with the knowledge to make informed decisions about their health and treatment options.

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PC Gene Pyruvate Carboxylase Deficiency Genetic Test

Test Details

PC (pyruvate carboxylase) deficiency is a rare genetic disorder characterized by a deficiency of the enzyme pyruvate carboxylase, which plays a crucial role in the production of glucose and energy in the body. This deficiency leads to the accumulation of toxic substances, such as lactate and pyruvate, in the blood and tissues.

Test Name

PC Gene Pyruvate Carboxylase Deficiency Genetic Test

Components

  • NGS Technology

Price

4400.0 AED

Sample Condition

Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery

3 to 4 Weeks

Test Type

Metabolic Disorders

Doctor

General Physician

Test Department

Genetics

Pre Test Information

Clinical History of Patient who is going for PC Gene Pyruvate Carboxylase Deficiency NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate carboxylase deficiency

Test Details

PC (pyruvate carboxylase) deficiency is a rare genetic disorder characterized by a deficiency of the enzyme pyruvate carboxylase, which plays a crucial role in the production of glucose and energy in the body. This deficiency leads to the accumulation of toxic substances, such as lactate and pyruvate, in the blood and tissues. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of PC deficiency, NGS genetic testing can be used to identify mutations or variations in the gene responsible for encoding the pyruvate carboxylase enzyme. NGS genetic testing for PC deficiency can help in diagnosing the condition, determining the specific genetic cause, and providing information about the risk of passing on the disorder to future generations. It can also aid in guiding treatment decisions and management strategies for affected individuals. It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetic disorders, as the results can have significant implications for the individual and their family. Genetic counseling is often recommended before and after genetic testing to discuss the benefits, limitations, and potential consequences of the test.

Test Name PC Gene Pyruvate carboxylase deficiency 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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for PC Gene Pyruvate carboxylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate carboxylase deficiency
Test Details

PC (pyruvate carboxylase) deficiency is a rare genetic disorder characterized by a deficiency of the enzyme pyruvate carboxylase, which plays a crucial role in the production of glucose and energy in the body. This deficiency leads to the accumulation of toxic substances, such as lactate and pyruvate, in the blood and tissues.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of PC deficiency, NGS genetic testing can be used to identify mutations or variations in the gene responsible for encoding the pyruvate carboxylase enzyme.

NGS genetic testing for PC deficiency can help in diagnosing the condition, determining the specific genetic cause, and providing information about the risk of passing on the disorder to future generations. It can also aid in guiding treatment decisions and management strategies for affected individuals.

It is important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetic disorders, as the results can have significant implications for the individual and their family. Genetic counseling is often recommended before and after genetic testing to discuss the benefits, limitations, and potential consequences of the test.

SKU: TEST-2606 Category:

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