COA5 Gene Cardioencephalomyopathy Genetic Test
COA5 Gene Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3 Genetic Test is offered at DNA Labs UAE. This test is designed to diagnose and assess the severity of the condition in individuals suspected of having COA5 gene cardioencephalomyopathy.
Test Details
COA5 gene cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 is a rare genetic disorder that affects the function of the mitochondria, the energy-producing structures within cells. This condition is caused by mutations in the COA5 gene, which provides instructions for making a protein involved in the assembly of cytochrome c oxidase, an enzyme that is essential for mitochondrial function.
Individuals with this condition typically present in infancy with symptoms such as heart abnormalities, including cardiomyopathy (enlarged and weakened heart), as well as neurological problems such as developmental delay, muscle weakness, and seizures. The severity of symptoms can vary, but the condition is generally progressive and can be life-threatening in infancy.
NGS genetic testing, or next-generation sequencing, is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the COA5 gene. This testing method can identify mutations or variations in the COA5 gene that may be causing the cardioencephalomyopathy and cytochrome c oxidase deficiency.
NGS testing can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing the condition on to future generations.
Test Components and Price
The COA5 Gene Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3 Genetic Test is priced at 4400.0 AED.
Sample Condition
The sample required for this test can be either blood or extracted DNA. Alternatively, one drop of blood can be collected on an FTA Card.
Report Delivery
The report for this test will be delivered within 3 to 4 weeks.
Test Type and Doctor
The COA5 Gene Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3 Genetic Test falls under the category of Cardiovascular Pneumology Disorders. It is recommended to consult with a Cardiologist for this test.
Test Department
This test is conducted in the Genetics department of DNA Labs UAE.
Pre Test Information
Prior to undergoing the COA5 Gene Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3 NGS Genetic DNA 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 COA5 Gene Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3 NGS Genetic DNA Test gene COA5.
It is important to note that this response is for informational purposes only and should not be used as a substitute for professional medical advice. If you suspect that you or someone you know may have COA5 gene cardioencephalomyopathy, it is recommended to consult with a healthcare professional or a genetic counselor for a proper evaluation and diagnosis.
| Test Name | COA5 Gene Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency type 3 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 | Cardiovascular Pneumology Disorders |
| Doctor | Cardiologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic DNA Test gene COA5 |
| Test Details | COA5 gene cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 is a rare genetic disorder that affects the function of the mitochondria, the energy-producing structures within cells. This condition is caused by mutations in the COA5 gene, which provides instructions for making a protein involved in the assembly of cytochrome c oxidase, an enzyme that is essential for mitochondrial function. Individuals with this condition typically present in infancy with symptoms such as heart abnormalities, including cardiomyopathy (enlarged and weakened heart), as well as neurological problems such as developmental delay, muscle weakness, and seizures. The severity of symptoms can vary, but the condition is generally progressive and can be life-threatening in infancy. NGS genetic testing, or next-generation sequencing, is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the COA5 gene. This testing method can identify mutations or variations in the COA5 gene that may be causing the cardioencephalomyopathy and cytochrome c oxidase deficiency. NGS testing can help confirm a diagnosis, guide treatment decisions, and provide information about the likelihood of passing the condition on to future generations. It is important to note that this response is for informational purposes only and should not be used as a substitute for professional medical advice. If you suspect that you or someone you know may have COA5 gene cardioencephalomyopathy, it is recommended to consult with a healthcare professional or a genetic counselor for a proper evaluation and diagnosis. |
