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VARS2 Gene Combined oxidative phosphorylation deficiency type 20 Genetic Test

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

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The VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the VARS2 gene. These mutations are associated with Combined Oxidative Phosphorylation Deficiency Type 20 (COXPD20), a rare genetic disorder that affects the body’s energy production. This condition is part of a group of disorders that impair the oxidative phosphorylation process, which is crucial for generating the majority of the cell’s supply of adenosine triphosphate (ATP), used as a source of chemical energy.

The VARS2 gene plays a significant role in mitochondrial function and energy production, making its mutations particularly impactful on cellular energy levels. Individuals with COXPD20 may experience a wide range of symptoms, including developmental delay, muscle weakness, and metabolic abnormalities, among others. Early and accurate diagnosis through genetic testing is essential for the management of the condition, allowing for tailored treatment plans and interventions.

The test is priced at 4400 AED and is conducted at DNA Labs UAE, a facility known for its advanced genetic testing services. By analyzing a sample of the patient’s DNA, the test can pinpoint specific mutations in the VARS2 gene, providing crucial information for diagnosis, prognosis, and treatment planning. DNA Labs UAE employs state-of-the-art technology and methodologies to ensure high accuracy and reliability of the test results, making it a valuable resource for individuals suspected of having COXPD20 or for families with a history of the condition.

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VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test

At DNA Labs UAE, we offer the VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test. This test is designed to analyze an individual’s DNA sequence for specific genetic variations or mutations in the VARS2 gene.

Test Details

The VARS2 gene is responsible for encoding the enzyme valyl-tRNA synthetase 2, which plays a crucial role in protein synthesis. Mutations in this gene can lead to a condition called combined oxidative phosphorylation deficiency type 20. This condition affects the energy-producing centers of cells, known as mitochondria, and specifically impairs the oxidative phosphorylation process responsible for generating ATP.

Our NGS (Next-Generation Sequencing) technology allows us to identify any mutations or variations in the VARS2 gene that may be causing the combined oxidative phosphorylation deficiency type 20. This genetic test can be particularly useful in diagnosing individuals with symptoms suggestive of mitochondrial disorders, such as muscle weakness, exercise intolerance, developmental delays, or intellectual disabilities.

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

Prior to undergoing the VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the combined oxidative phosphorylation deficiency type 20.

Importance of the Test

Identifying the specific genetic mutation in the VARS2 gene can provide valuable information for disease management, prognosis, and potential treatment options. This test can aid in the diagnosis of individuals with suspected mitochondrial disorders, allowing for appropriate medical interventions and support.

At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Contact us today to learn more about the VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test or to schedule an appointment.

Test Name VARS2 Gene Combined oxidative phosphorylation deficiency type 20 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 VARS2 Gene Combined oxidative phosphorylation deficiency type 20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 20
Test Details

The VARS2 gene is responsible for encoding the enzyme valyl-tRNA synthetase 2, which is involved in protein synthesis. Mutations in this gene can lead to a condition called combined oxidative phosphorylation deficiency type 20.

Combined oxidative phosphorylation deficiency refers to a group of disorders that affect the energy-producing centers of cells, known as mitochondria. This type of deficiency specifically affects the oxidative phosphorylation process, which is responsible for generating ATP (the energy currency of cells) through the electron transport chain.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze an individual’s DNA sequence for specific genetic variations or mutations. In the case of VARS2 gene testing, NGS can be used to identify any mutations or variations in the VARS2 gene that may be causing the combined oxidative phosphorylation deficiency type 20.

This genetic test can be helpful in diagnosing individuals with symptoms suggestive of mitochondrial disorders, such as muscle weakness, exercise intolerance, developmental delays, or intellectual disabilities. Identifying the specific genetic mutation can provide important information for disease management, prognosis, and potential treatment options.

SKU: TEST-2245 Category:

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