SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Dominant Genetic Test
Test Name: SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Autosomal Dominant Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, autosomal dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, autosomal dominant.
Test Details
The SLC25A4 gene is associated with a condition called Progressive External Ophthalmoplegia (PEO) with Mitochondrial Deletions Type 2. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the gene mutation on to each of their children.
PEO is a progressive disorder that primarily affects the muscles responsible for eye movement (ophthalmoplegia). Individuals with PEO may experience weakness and paralysis of the eye muscles, leading to droopy eyelids (ptosis) and difficulty moving the eyes. Other symptoms may include muscle weakness in other parts of the body, exercise intolerance, and fatigue.
The genetic test for PEO with Mitochondrial Deletions Type 2 involves Next-Generation Sequencing (NGS) technology. This test analyzes the DNA sequence of the SLC25A4 gene to identify any mutations or deletions that may be present. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variants associated with the condition.
Genetic testing can help confirm a diagnosis of PEO with Mitochondrial Deletions Type 2 in individuals with clinical symptoms. It can also be used for predictive testing in at-risk individuals who have a family history of the condition but do not yet show symptoms. Genetic counseling is recommended before and after testing to discuss the potential implications and limitations of the test results.
| Test Name | SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2 autosomal dominant 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 SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant |
| Test Details |
The SLC25A4 gene is associated with a condition called Progressive External Ophthalmoplegia (PEO) with Mitochondrial Deletions Type 2. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the gene mutation on to each of their children. PEO is a progressive disorder that primarily affects the muscles responsible for eye movement (ophthalmoplegia). Individuals with PEO may experience weakness and paralysis of the eye muscles, leading to droopy eyelids (ptosis) and difficulty moving the eyes. Other symptoms may include muscle weakness in other parts of the body, exercise intolerance, and fatigue. The genetic test for PEO with Mitochondrial Deletions Type 2 involves Next-Generation Sequencing (NGS) technology. This test analyzes the DNA sequence of the SLC25A4 gene to identify any mutations or deletions that may be present. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of genetic variants associated with the condition. Genetic testing can help confirm a diagnosis of PEO with Mitochondrial Deletions Type 2 in individuals with clinical symptoms. It can also be used for predictive testing in at-risk individuals who have a family history of the condition but do not yet show symptoms. Genetic counseling is recommended before and after testing to discuss the potential implications and limitations of the test results. |
