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AARS2 Gene Combined oxidative phosphorylation deficiency type 8 Genetic Test

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

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The AARS2 gene plays a critical role in mitochondrial function, specifically in the process known as oxidative phosphorylation, which is crucial for energy production within cells. Mutations in the AARS2 gene can lead to Combined Oxidative Phosphorylation Deficiency Type 8 (COXPD8), a rare genetic condition that can affect various systems in the body, leading to a wide range of symptoms including developmental delay, muscle weakness, and heart problems.

To diagnose this condition, a genetic test focusing on the AARS2 gene can be conducted. This test involves analyzing the patient’s DNA to identify mutations in the AARS2 gene that are known to cause COXPD8. It is a critical step for confirming the diagnosis, understanding the disease’s progression, and potentially guiding treatment options.

In the UAE, this specific genetic test is available at DNA Labs UAE, a facility known for its comprehensive genetic testing services. The cost of the AARS2 gene test is 4400 AED. Opting for this test at DNA Labs UAE ensures that individuals suspected of having COXPD8 receive a precise diagnosis, allowing for better-informed decisions regarding their health and management of the condition.

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AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 Genetic Test

Test Details

The AARS2 gene is associated with Combined Oxidative Phosphorylation Deficiency Type 8 (COXPD8), a rare genetic disorder affecting the mitochondria, the energy-producing structures within cells.

Next-Generation Sequencing (NGS) technology is used for this genetic test. NGS allows for the simultaneous analysis of multiple genes. In the case of the AARS2 gene, specific regions are sequenced to identify any variations or mutations.

This test is crucial for diagnosing individuals with COXPD8 by detecting known mutations in the AARS2 gene. It can also be used for carrier testing in individuals at risk of passing on the condition to their children.

An AARS2 gene NGS genetic test provides essential information about an individual’s genetic makeup, aiding in medical management and treatment decisions. It is typically performed by a medical geneticist or genetic counselor in a specialized laboratory setting.

Test Name: AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 Genetic Test

Components

  • Price: 4400.0 AED
  • Sample Condition: Blood
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Metabolic Disorders
  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information

A Clinical History of the patient is required before undergoing the AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 NGS Genetic DNA Test. Additionally, a Genetic Counselling session is conducted to draw a pedigree chart of family members affected by Combined Oxidative Phosphorylation Deficiency Type 8.

Test Name AARS2 Gene Combined oxidative phosphorylation deficiency type 8 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood
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 AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 8
Test Details

The AARS2 gene is associated with Combined Oxidative Phosphorylation Deficiency Type 8 (COXPD8), which is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells.

NGS stands for Next-Generation Sequencing, which is a high-throughput DNA sequencing technology used to analyze multiple genes simultaneously. In the context of genetic testing, an NGS genetic test for the AARS2 gene would involve sequencing the specific regions of the gene to identify any variations or mutations that may be present.

This type of genetic test can help diagnose individuals with COXPD8 by identifying mutations in the AARS2 gene that are known to cause the disorder. It can also be used for carrier testing in individuals who may be at risk of passing on the condition to their children.

Overall, an AARS2 gene NGS genetic test can provide important information about an individual’s genetic makeup and help guide medical management and treatment decisions. It is typically performed by a medical geneticist or genetic counselor in a specialized laboratory setting.

SKU: TEST-2257 Category:

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