ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test
At DNA Labs UAE, we offer the ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test to help diagnose and understand mitochondrial complex V deficiency. This test is specifically designed for individuals suspected of having ATP5F1E gene-related mitochondrial complex V deficiency, also known as ATP synthase deficiency, nuclear type 3.
Test Components and Price
The ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test is priced at 4400.0 AED. The test requires a blood or extracted DNA sample, or alternatively, one drop of blood on an FTA card.
Report Delivery
The test results will be delivered within 3 to 4 weeks after sample submission.
Method and Test Type
The ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test utilizes Next-Generation Sequencing (NGS) technology. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes or the entire genome. It can detect various types of genetic variations, including point mutations, insertions, deletions, and rearrangements. In this case, the test focuses on the ATP5F1E gene, which encodes a subunit of the mitochondrial complex V, also known as ATP synthase.
Referring Doctor and Test Department
The ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test is recommended by neurologists, as it falls under the category of neurological disorders. The test is conducted in the Genetics department of our laboratory.
Pre-Test Information
Prior to undergoing the ATP5F1E Gene Mitochondrial Complex V ATP Synthase Deficiency Nuclear Type 3 Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by ATP5F1E gene-related mitochondrial complex V deficiency. This information helps in understanding the inheritance pattern and identifying potential carriers within the family.
Test Details
The ATP5F1E gene is responsible for encoding a subunit of the mitochondrial complex V, also known as ATP synthase. Deficiencies in this gene can lead to mitochondrial complex V deficiency, specifically nuclear type 3. To diagnose ATP5F1E gene-related mitochondrial complex V deficiency, a Next-Generation Sequencing (NGS) genetic test is performed. This test involves obtaining a DNA sample, typically through a blood or saliva sample. The DNA is then sequenced using NGS technology, and the resulting sequence data is analyzed for any genetic variations in the ATP5F1E gene.
The genetic test can identify specific mutations or variations in the ATP5F1E gene that are associated with mitochondrial complex V deficiency. This information is crucial in confirming a diagnosis, understanding the underlying cause of the disease, and potentially guiding treatment options.
It is important to note that genetic testing should be conducted and interpreted by healthcare professionals with expertise in genetics, such as genetic counselors or clinical geneticists. These professionals provide appropriate counseling, explain the implications of the test results, and help guide further management and treatment decisions.
| Test Name | ATP5F1E Gene Mitochondrial complex V ATP synthase deficiency nuclear type 3 Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 |
| Test Details |
ATP5F1E gene encodes a subunit of the mitochondrial complex V, also known as ATP synthase. Deficiencies in this gene can lead to mitochondrial complex V deficiency, specifically nuclear type 3. To diagnose ATP5F1E gene-related mitochondrial complex V deficiency, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes or the entire genome. It can detect various types of genetic variations, including point mutations, insertions, deletions, and rearrangements. The NGS genetic test for ATP5F1E gene-related mitochondrial complex V deficiency involves obtaining a DNA sample, typically through a blood or saliva sample. The DNA is then sequenced using NGS technology, and the resulting sequence data is analyzed for any genetic variations in the ATP5F1E gene. The genetic test can identify specific mutations or variations in the ATP5F1E gene that are associated with mitochondrial complex V deficiency. This information can help in confirming a diagnosis, understanding the underlying cause of the disease, and potentially guiding treatment options. It is important to note that genetic testing should be conducted and interpreted by healthcare professionals with expertise in genetics, such as genetic counselors or clinical geneticists. They can provide appropriate counseling, explain the implications of the test results, and help guide further management and treatment decisions. |
