MRPL3 Gene Combined Oxidative Phosphorylation Deficiency Type 9 Genetic Test
Cost: 3200.0 AED
Test Components:
- 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 MRPL3 Gene Combined Oxidative Phosphorylation Deficiency Type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 9.
Test Details:
The MRPL3 gene is responsible for providing instructions for making a protein called mitochondrial ribosomal protein L3. This protein is a component of the mitochondrial ribosome, which is responsible for protein synthesis within the mitochondria. Combined oxidative phosphorylation deficiency type 9 (COXPD9) is a genetic disorder characterized by a defect in the mitochondrial respiratory chain, specifically affecting oxidative phosphorylation. This leads to a decrease in the production of ATP, the main energy source for cells.
NGS genetic testing refers to Next-Generation Sequencing, which is a high-throughput method used to sequence the entire coding region of a gene or multiple genes simultaneously. It allows for the detection of genetic variations, such as mutations or deletions, that may be responsible for certain genetic disorders. Therefore, an MRPL3 gene NGS genetic test would involve sequencing the MRPL3 gene to identify any variations or mutations that may be associated with COXPD9. This can help in the diagnosis and management of the condition.
Test Name | MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 Genetic Test |
---|---|
Components | |
Price | 3200.0 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 MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 9 |
Test Details |
The MRPL3 gene is responsible for providing instructions for making a protein called mitochondrial ribosomal protein L3. This protein is a component of the mitochondrial ribosome, which is responsible for protein synthesis within the mitochondria. Combined oxidative phosphorylation deficiency type 9 (COXPD9) is a genetic disorder characterized by a defect in the mitochondrial respiratory chain, specifically affecting oxidative phosphorylation. This leads to a decrease in the production of ATP, the main energy source for cells. NGS genetic testing refers to Next-Generation Sequencing, which is a high-throughput method used to sequence the entire coding region of a gene or multiple genes simultaneously. It allows for the detection of genetic variations, such as mutations or deletions, that may be responsible for certain genetic disorders. Therefore, an MRPL3 gene NGS genetic test would involve sequencing the MRPL3 gene to identify any variations or mutations that may be associated with COXPD9. This can help in the diagnosis and management of the condition. |