TARS2 Gene Combined oxidative phosphorylation deficiency type 21 Genetic Test
Welcome to DNA Labs UAE, where we offer the TARS2 Gene Combined oxidative phosphorylation deficiency type 21 Genetic Test. This test is designed to diagnose the rare genetic disorder known as Combined oxidative phosphorylation deficiency type 21 (COXPD21), which is caused by mutations in the TARS2 gene.
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 TARS2 Gene Combined oxidative phosphorylation deficiency type 21 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with COXPD21.
Test Details
The TARS2 gene is responsible for producing an enzyme called threonyl-tRNA synthetase 2. This enzyme plays a crucial role in protein synthesis and is primarily found in the mitochondria, which are the powerhouses of the cell. COXPD21 is a rare genetic disorder that occurs when there are mutations in the TARS2 gene, leading to a deficiency in oxidative phosphorylation.
Oxidative phosphorylation is a process that occurs within the mitochondria and produces energy in the form of adenosine triphosphate (ATP). The TARS2 gene is sequenced using Next-Generation Sequencing (NGS) technology to identify any mutations or variations that may be present. NGS genetic tests are highly sensitive and can detect even small variations in the DNA sequence.
An accurate diagnosis of COXPD21 is crucial for understanding the underlying cause of the condition and developing appropriate treatment strategies. It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate guidance and support.
At DNA Labs UAE, we prioritize the accuracy and reliability of our genetic tests. Our team of experts is dedicated to providing the highest quality service and ensuring the utmost confidentiality of your genetic information.
Test Name | TARS2 Gene Combined oxidative phosphorylation deficiency type 21 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 TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 21 |
Test Details |
The TARS2 gene is responsible for providing instructions to make an enzyme called threonyl-tRNA synthetase 2. This enzyme is involved in protein synthesis and plays a crucial role in the mitochondria, which are the powerhouses of the cell. Combined oxidative phosphorylation deficiency type 21 (COXPD21) is a rare genetic disorder caused by mutations in the TARS2 gene. This condition affects the function of the mitochondria, leading to a deficiency in oxidative phosphorylation. Oxidative phosphorylation is a process that produces energy in the form of adenosine triphosphate (ATP) within the mitochondria. To diagnose COXPD21, a Next-Generation Sequencing (NGS) genetic test can be performed. This test involves sequencing the TARS2 gene to identify any mutations or variations that may be present. By analyzing the DNA sequence, geneticists can determine if there are any abnormalities in the TARS2 gene that may be causing COXPD21. NGS genetic tests are highly sensitive and can detect even small variations in the DNA sequence. They can provide a comprehensive analysis of the TARS2 gene, allowing for an accurate diagnosis of COXPD21. This information is crucial for understanding the underlying cause of the condition and developing appropriate treatment strategies. It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate guidance and support. |