ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 Genetic Test
Components: ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 Genetic Test
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 ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 22
Test Details
The ATP5F1A gene is associated with Combined Oxidative Phosphorylation Deficiency Type 22 (COXPD22), which is a rare genetic disorder that affects the energy production in cells. This disorder is characterized by a deficiency in the oxidative phosphorylation process, which is responsible for generating ATP (adenosine triphosphate), the main energy source for cells.
NGS (Next-Generation Sequencing) Genetic Test refers to a type of genetic testing method that uses advanced sequencing technologies to analyze a large number of genes simultaneously. This technique allows for the identification of genetic variants and mutations that may be associated with specific disorders or conditions, including COXPD22 caused by mutations in the ATP5F1A gene.
The NGS Genetic Test for ATP5F1A gene mutations can be used to diagnose COXPD22 in individuals suspected to have this disorder. It involves obtaining a DNA sample from the patient, usually through a blood sample, and then sequencing the ATP5F1A gene to identify any genetic variants or mutations that may be present.
By identifying specific mutations in the ATP5F1A gene, the NGS Genetic Test can help confirm a diagnosis of COXPD22 and provide important information for the management and treatment of the condition. It can also be used for carrier testing in family members of affected individuals or for prenatal testing in families with a known ATP5F1A mutation.
It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as genetic counselors or geneticists, who can provide appropriate guidance and counseling based on the results.
| Test Name | ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 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 ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 22 |
| Test Details |
The ATP5F1A gene is associated with Combined Oxidative Phosphorylation Deficiency Type 22 (COXPD22), which is a rare genetic disorder that affects the energy production in cells. This disorder is characterized by a deficiency in the oxidative phosphorylation process, which is responsible for generating ATP (adenosine triphosphate), the main energy source for cells. NGS (Next-Generation Sequencing) Genetic Test refers to a type of genetic testing method that uses advanced sequencing technologies to analyze a large number of genes simultaneously. This technique allows for the identification of genetic variants and mutations that may be associated with specific disorders or conditions, including COXPD22 caused by mutations in the ATP5F1A gene. The NGS Genetic Test for ATP5F1A gene mutations can be used to diagnose COXPD22 in individuals suspected to have this disorder. It involves obtaining a DNA sample from the patient, usually through a blood sample, and then sequencing the ATP5F1A gene to identify any genetic variants or mutations that may be present. By identifying specific mutations in the ATP5F1A gene, the NGS Genetic Test can help confirm a diagnosis of COXPD22 and provide important information for the management and treatment of the condition. It can also be used for carrier testing in family members of affected individuals or for prenatal testing in families with a known ATP5F1A mutation. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as genetic counselors or geneticists, who can provide appropriate guidance and counseling based on the results. |