ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 Genetic Test
Test Name: ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 17.
Test Details
ELAC2 gene combined oxidative phosphorylation deficiency type 17 is a genetic disorder that affects the function of the mitochondria, the powerhouses of the cell. This disorder is caused by mutations in the ELAC2 gene, which provides instructions for producing an enzyme called RNase Z. This enzyme is involved in the processing of RNA molecules, which are essential for the production of proteins.
A NGS (Next-Generation Sequencing) genetic test can be used to detect mutations in the ELAC2 gene. This type of test involves sequencing the DNA of an individual to identify any changes or variations in the gene sequence. NGS technology allows for the analysis of multiple genes simultaneously, making it a powerful tool for identifying genetic disorders.
By identifying mutations in the ELAC2 gene, a NGS genetic test can confirm a diagnosis of combined oxidative phosphorylation deficiency type 17. This information can be crucial for determining the appropriate treatment and management strategies for individuals with this disorder.
It is important to note that a NGS genetic test should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance.
| Test Name | ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 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 ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 17 |
| Test Details |
ELAC2 gene combined oxidative phosphorylation deficiency type 17 is a genetic disorder that affects the function of the mitochondria, the powerhouses of the cell. This disorder is caused by mutations in the ELAC2 gene, which provides instructions for producing an enzyme called RNase Z. This enzyme is involved in the processing of RNA molecules, which are essential for the production of proteins. A NGS (Next-Generation Sequencing) genetic test can be used to detect mutations in the ELAC2 gene. This type of test involves sequencing the DNA of an individual to identify any changes or variations in the gene sequence. NGS technology allows for the analysis of multiple genes simultaneously, making it a powerful tool for identifying genetic disorders. By identifying mutations in the ELAC2 gene, a NGS genetic test can confirm a diagnosis of combined oxidative phosphorylation deficiency type 17. This information can be crucial for determining the appropriate treatment and management strategies for individuals with this disorder. It is important to note that a NGS genetic test should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance. |
