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. |
