The SLC25A4 gene, associated with Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 (PEO2), plays a crucial role in mitochondrial function and energy production. PEO2 is a genetic disorder characterized by weakness in the muscles that control eye and eyelid movement, leading to drooping eyelids (ptosis) and difficulty moving the eyes (ophthalmoplegia). It may also involve muscle weakness in other parts of the body. This condition is autosomal dominant, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
To diagnose this condition, a specific genetic test is available at DNA Labs UAE, which analyzes the SLC25A4 gene for mutations that are known to cause the disorder. The test is priced at 4400 AED. It is a critical step for individuals showing symptoms of PEO2 or those with a family history of the condition, as it can confirm the diagnosis and inform treatment strategies. Furthermore, the test can provide essential information for family planning decisions for those carrying the mutation.
The RNASEH1 gene plays a crucial role in maintaining the integrity of mitochondrial DNA, which is essential for normal cellular energy production. Mutations in the RNASEH1 gene can lead to Progressive External Ophthalmoplegia with Mitochondrial Deletions, Type 2, an autosomal recessive disorder. This condition is characterized by weakness in the muscles that control eye and eyelid movement, leading to drooping eyelids (ptosis) and difficulty moving the eyes, which can result in double vision. Additionally, affected individuals may experience muscle weakness in other parts of the body.
To diagnose this condition, a genetic test targeting the RNASEH1 gene can be performed. DNA Labs UAE offers this specialized genetic test, which is designed to identify mutations in the RNASEH1 gene that are associated with the development of Progressive External Ophthalmoplegia with Mitochondrial Deletions, Type 2. The test is crucial for confirming the diagnosis, understanding the disease's progression, and guiding treatment options.
The cost of the RNASEH1 gene genetic test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of specific mutations in the RNASEH1 gene. This test is an important tool for individuals experiencing symptoms of Progressive External Ophthalmoplegia with Mitochondrial Deletions, Type 2, or for those with a family history of the condition, as it can provide a definitive diagnosis and facilitate appropriate management and genetic counseling.
The TWNK Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 3 Autosomal Dominant Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE. This test is designed to identify mutations in the TWNK gene, which have been associated with Progressive External Ophthalmoplegia (PEO) Type 3, a condition characterized by weakness of the eye muscles and, in some cases, other systemic symptoms due to mitochondrial deletions. PEO is an autosomal dominant disorder, meaning that a mutation in just one of the two copies of the gene can lead to the condition.
PEO can lead to symptoms such as drooping eyelids, difficulty moving the eyes, and in more severe cases, can affect other muscles in the body. The presence of mitochondrial deletions adds complexity to the condition, potentially leading to a broader spectrum of symptoms, including but not limited to muscle weakness, heart issues, and neurological deficits.
The genetic test offered by DNA Labs UAE for this condition costs 4400 AED. It involves analyzing the patient's DNA to look for specific mutations in the TWNK gene that are known to cause the disorder. This test is crucial for accurate diagnosis and can also provide valuable information for family planning and understanding the risk of passing the condition to offspring. Early diagnosis through genetic testing can also assist in the management of symptoms and in improving the quality of life for those affected by PEO.
The POLG2 gene test for Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4 (autosomal dominant) is a specialized genetic test available at DNA Labs UAE. This test is designed to identify mutations in the POLG2 gene, which are associated with the development of Progressive External Ophthalmoplegia (PEO) type 4. PEO is a disorder characterized by weakness of the muscles around the eyes and eyelids (leading to drooping eyelids and difficulty moving the eyes), and can also affect other muscles in the body. The autosomal dominant inheritance pattern means that a mutation in just one of the two copies of the gene can cause the condition.
The test is crucial for individuals who have a family history of PEO or show symptoms suggestive of the disorder, as it helps in confirming the diagnosis, understanding the risk of passing the mutation to offspring, and guiding management and treatment options. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed for the presence of mutations in the POLG2 gene.
The cost of the POLG2 gene test at DNA Labs UAE is 4400 AED. This price may cover the cost of the sample collection, genetic analysis, and the provision of a comprehensive report that explains the results. It is advisable for individuals considering this test to consult with a genetic counselor or a healthcare provider to understand the implications of the test results for themselves and their family members.
The "RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant Genetic Test" is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the RRM2B gene. These mutations are associated with a form of progressive external ophthalmoplegia (PEO), a condition characterized by weakness of the eye muscles and, in some cases, other muscles in the body. This particular type of PEO, known as Type 5, is autosomal dominant, meaning that only one copy of the mutated gene inherited from a parent is sufficient to cause the condition. This test plays a crucial role in the accurate diagnosis and understanding of the genetic basis of the disease, which can significantly impact treatment decisions and family planning. The cost of the test is 4400 AED, reflecting the specialized nature of the genetic analysis and the expertise required to interpret the results. Conducted at DNA Labs UAE, this test is a vital resource for individuals and families affected by this rare genetic condition, offering insights into the genetic underpinnings and aiding in the management of the disease.
The PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the PRICKLE1 gene, which are associated with Progressive Myoclonus Epilepsy Type 1A (PME 1A). PME 1A is a rare genetic disorder characterized by myoclonic seizures, epileptic episodes, and potentially progressive neurological decline. The test is crucial for individuals displaying symptoms suggestive of PME 1A or for those with a family history of the condition, as it aids in confirming the diagnosis, understanding the disease's progression, and tailoring appropriate treatment plans.
The testing process involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any genetic abnormalities in the PRICKLE1 gene. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in this specific gene. Early and precise diagnosis through the PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A Genetic Test enables healthcare providers to offer better management strategies for affected individuals, potentially improving their quality of life.
The KCTD7 gene progressive myoclonus epilepsy type 3 genetic test is a specialized diagnostic tool designed to detect mutations in the KCTD7 gene, which are associated with progressive myoclonus epilepsy type 3 (PME3), a rare and severe neurological disorder. This condition is characterized by a combination of myoclonic seizures, epileptic episodes, and, in some cases, cognitive decline. Early and accurate diagnosis through genetic testing is crucial for the management and treatment of PME3, as it allows for tailored treatment plans and helps families understand the genetic implications of the condition.
Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample, usually through a blood draw or cheek swab, and analyzing the genetic material for specific mutations in the KCTD7 gene. DNA Labs UAE employs state-of-the-art technology and expertise to ensure high accuracy and reliability of the test results.
The cost of the KCTD7 gene progressive myoclonus epilepsy type 3 genetic test at DNA Labs UAE is 4400 AED. While the price may seem significant, the value of obtaining a precise diagnosis cannot be understated, as it plays a critical role in the effective management of the condition and in providing genetic counseling for affected families.
The GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 Genetic Test is a specialized diagnostic tool used to identify mutations in the GOSR2 gene, which are associated with Progressive Myoclonus Epilepsy Type 6 (PME6). This condition is a rare genetic disorder characterized by myoclonic seizures, ataxia, and progressive neurological decline. Early and accurate diagnosis through genetic testing can help in managing symptoms, tailoring treatment plans, and providing genetic counseling for affected individuals and their families.
The test involves collecting a DNA sample, typically through a blood draw, and analyzing the GOSR2 gene for specific mutations. It is a crucial step for families with a history of PME6, providing them with valuable information regarding the genetic makeup and the risk of passing the disorder to future generations.
Conducted by DNA Labs UAE, a reputable facility known for its advanced genetic testing services, the test is priced at 4400 AED. DNA Labs UAE employs cutting-edge technology and adheres to stringent quality control measures to ensure accurate and reliable test results, making it a trusted choice for genetic testing in the region.
The CERS1 Gene Progressive Myoclonus Epilepsy Type 8 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the CERS1 gene, which are implicated in the development of Progressive Myoclonus Epilepsy Type 8 (PME-8). PME-8 is a rare, inherited neurological disorder characterized by a combination of myoclonic seizures (sudden, involuntary muscle jerks) and progressive neurological decline. This condition is part of a group of diseases known as the progressive myoclonus epilepsies, which vary in their cause and genetic background.
The genetic test involves analyzing the patient's DNA to detect specific mutations in the CERS1 gene that are known to cause PME-8. Early and accurate diagnosis through genetic testing can be crucial for the management of the condition, allowing for tailored treatment plans and genetic counseling for affected families.
The test is priced at 4400 AED and is conducted at DNA Labs UAE, a facility known for its expertise in genetic diagnostics and personalized medicine. The cost reflects the complex nature of the genetic analysis and the significant insight it provides into managing a rare and challenging condition like PME-8.
The TANC1 gene psychomotor retardation genetic test is a specialized diagnostic tool designed to identify mutations in the TANC1 gene, which are linked to certain forms of psychomotor retardation. Psychomotor retardation is a condition characterized by a significant slowing-down of thought and a reduction of physical movements, often resulting in delayed developmental milestones. The TANC1 gene plays a critical role in brain development and function, and mutations in this gene can lead to various neurological and developmental disorders.
This genetic test is crucial for early diagnosis and intervention, offering insights that can guide therapeutic and support strategies to improve the quality of life for affected individuals and their families. Conducted at DNA Labs UAE, a leading facility in genetic testing, the test ensures accuracy and reliability, employing advanced genomic technologies to detect the presence of mutations in the TANC1 gene.
The cost of the TANC1 gene psychomotor retardation genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis and detailed reporting necessary to understand the implications of the test results. By identifying the genetic underpinnings of psychomotor retardation, this test paves the way for personalized treatment plans and offers hope for better management of the condition.
