The SERPINI1 gene encephalopathy, also known as familial encephalopathy with neuroserpin inclusion bodies (FENIB), is a rare genetic disorder characterized by the accumulation of mutant neuroserpin protein within the brain's neurons. This accumulation leads to neuronal damage, resulting in a range of neurological symptoms such as dementia, epilepsy, and movement disorders. The condition is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene can cause the disorder.
Genetic testing for SERPINI1 gene encephalopathy is a crucial step in diagnosing this condition, enabling healthcare professionals to confirm the presence of mutations in the SERPINI1 gene that are responsible for the disease. This test involves analyzing the DNA to identify mutations in the SERPINI1 gene that lead to the abnormal production of neuroserpin.
At DNA Labs UAE, the genetic test for SERPINI1 gene encephalopathy is available, providing a vital diagnostic tool for families affected by this condition. The test cost is 4400 AED, which reflects the comprehensive analysis and the specialized expertise required to interpret the results accurately. Through this test, affected individuals and their families can gain a better understanding of their condition, enabling informed decisions regarding management and treatment options. Additionally, it can help in identifying at-risk family members who may benefit from genetic counseling and potential early intervention strategies.
The BSCL2 gene enccephalopathy progressive with or without lipodystrophy genetic test is a specialized diagnostic tool offered by DNA Labs UAE. This test is specifically designed to detect mutations in the BSCL2 gene, which are known to cause a rare and progressive encephalopathy, often associated with lipodystrophy - a condition characterized by the abnormal distribution of fat in the body. The BSCL2 gene plays a crucial role in the development and function of the nervous system and adipose tissue. Mutations in this gene can lead to severe neurological impairment and metabolic abnormalities.
The test is conducted through a comprehensive analysis of the patient's DNA to identify any genetic anomalies present in the BSCL2 gene. It is a critical tool for clinicians in diagnosing this condition, enabling them to provide targeted treatment and management strategies for affected individuals. Early diagnosis through genetic testing can significantly improve the quality of life for patients by addressing symptoms and preventing progression where possible.
The cost of the BSCL2 gene encephalopathy progressive with or without lipodystrophy genetic test at DNA Labs UAE is set at 4400 AED. This cost includes the full processing of the patient's genetic material, analysis by expert geneticists, and a detailed report of the findings. Patients and healthcare providers considering this test should consult with a genetic counselor or specialist to understand its implications fully and how its results may influence medical management and family planning decisions.
The COLQ gene is crucial for the proper functioning of the neuromuscular junction, where nerve cells meet muscle cells to facilitate muscle contraction. Mutations in the COLQ gene can lead to a condition known as endplate acetylcholinesterase deficiency. This genetic disorder disrupts the breakdown of the neurotransmitter acetylcholine, leading to prolonged muscle contraction and resulting in symptoms such as muscle weakness and fatigue.
To diagnose this condition, a genetic test targeting the COLQ gene can be conducted. This test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The test specifically looks for mutations in the COLQ gene that are known to cause endplate acetylcholinesterase deficiency. Identifying these mutations can help in confirming the diagnosis, understanding the disease progression, and planning appropriate management strategies for affected individuals.
The cost of the COLQ Gene Endplate Acetylcholinesterase Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report of the findings. Patients considering this test should consult with their healthcare provider to discuss its relevance and implications based on their symptoms and medical history.
The PLEC Gene Epidermolysis Bullosa Simplex with Muscular Dystrophy Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, aimed at identifying mutations in the PLEC gene. These mutations are known to cause Epidermolysis Bullosa Simplex with Muscular Dystrophy (EBS-MD), a rare genetic disorder that affects the skin and muscles, leading to symptoms such as blistering of the skin and progressive muscle weakness. The test is crucial for early diagnosis, enabling targeted interventions and management strategies to improve the quality of life for affected individuals. The cost of the test is set at 4400 AED, reflecting the intricate technology and expertise involved in conducting this advanced genetic analysis. This test represents a significant step forward in the personalized medicine approach, offering hope to families affected by this challenging condition.
The PCDH19 gene is associated with early infantile epileptic encephalopathy type 9 (EIEE9), a rare genetic disorder primarily affecting females. It is characterized by the onset of seizures in infancy or early childhood, which can be accompanied by developmental delays and cognitive impairments as the condition progresses. The PCDH19 gene plays a crucial role in the development and function of the nervous system, and mutations in this gene are directly linked to the symptoms of EIEE9.
Genetic testing for mutations in the PCDH19 gene is essential for the accurate diagnosis of EIEE9. This testing helps in understanding the genetic basis of the condition, which can guide treatment decisions and provide information on the risk of recurrence in future pregnancies. DNA Labs UAE offers a comprehensive genetic test targeting the PCDH19 gene, providing a reliable diagnosis for families affected by early infantile epileptic encephalopathy type 9.
The cost of the PCDH19 gene test at DNA Labs UAE is 4400 AED. This specialized test is conducted using advanced genetic sequencing technologies to identify mutations in the PCDH19 gene that are responsible for EIEE9. By choosing DNA Labs UAE for this genetic testing, patients and their families can expect accurate results, which are crucial for the management and understanding of this challenging condition.
The EMD gene test for Emery-Dreifuss muscular dystrophy type 1 is a specialized genetic test conducted to diagnose Emery-Dreifuss muscular dystrophy (EDMD) type 1, a condition characterized by muscle weakness and wasting, joint contractures, and heart problems. This test specifically looks for mutations in the EMD gene, which provides instructions for producing emerin, a protein essential for the structural integrity and function of muscle cells and heart cells. Mutations in the EMD gene disrupt the normal production or function of emerin, leading to the symptoms associated with EDMD type 1.
DNA Labs UAE offers this genetic test at a cost of 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to identify any mutations in the EMD gene. It is a critical tool for confirming the diagnosis of EDMD type 1, enabling appropriate management and treatment plans for affected individuals. Additionally, this test can be used for carrier testing and prenatal diagnosis, providing valuable information for family planning decisions.
The LMNA Gene Emery-Dreifuss Muscular Dystrophy Type 2 Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the LMNA gene, which are associated with Emery-Dreifuss Muscular Dystrophy Type 2 (EDMD2). EDMD2 is a rare genetic condition characterized by muscle weakness and wasting, joint contractures, and heart problems, often leading to significant physical disability and cardiac issues. This test plays a critical role in the early detection and management of the disease, enabling healthcare providers to tailor treatments and interventions more effectively.
Priced at 4400 AED, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the lab for specific genetic mutations in the LMNA gene. Positive identification of these mutations can confirm a diagnosis of EDMD2, allowing for early and more precise medical and therapeutic interventions. Given the complexity of the disease and the importance of early diagnosis in managing symptoms and improving quality of life, the LMNA Gene Emery-Dreifuss Muscular Dystrophy Type 2 Genetic Test is a valuable resource for individuals exhibiting symptoms of the disease or those with a family history of EDMD2.
The SYNE1 gene plays a crucial role in Emery-Dreifuss Muscular Dystrophy type 4 (EDMD4), a condition characterized by muscle weakness, contractures, and cardiac abnormalities. Testing for mutations in the SYNE1 gene is critical for the diagnosis and management of EDMD4. DNA Labs UAE offers a genetic test specifically designed to detect mutations in the SYNE1 gene, providing essential information for patients and their families regarding prognosis, treatment options, and genetic counseling. The cost of this comprehensive test is 4400 AED. Conducted in a state-of-the-art laboratory setting, the test ensures accuracy and reliability, offering valuable insights into this rare genetic disorder.
The SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to detect mutations in the SYNE2 gene that are associated with Emery-Dreifuss Muscular Dystrophy (EDMD) type 5. This condition is a rare form of muscular dystrophy characterized by muscle weakness and wasting, joint contractures, and heart problems, which can vary in severity among affected individuals. The genetic test involves analyzing the patient's DNA to identify mutations in the SYNE2 gene, which play a crucial role in the structural integrity and function of muscle and heart cells. Early detection through this test can aid in the management and treatment of the condition, potentially improving the quality of life for those affected. The test is priced at 4400 AED and is conducted with high precision and confidentiality at DNA Labs UAE, ensuring patients receive accurate and timely results.
Emery-Dreifuss muscular dystrophy type 6 (EDMD6) is a rare genetic condition characterized by muscle weakness and wasting, joint contractures, and cardiac abnormalities. This condition is caused by mutations in the FHL1 gene, which plays a crucial role in muscle development and function. Identifying mutations in the FHL1 gene is essential for diagnosing EDMD6, assessing the risk of passing the condition to offspring, and guiding treatment and management decisions.
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the FHL1 gene associated with Emery-Dreifuss muscular dystrophy type 6. This test is a vital tool for individuals with a family history of EDMD6 or those presenting symptoms suggestive of the condition. The genetic test involves analyzing the patient's DNA, extracted from a blood sample, to identify any mutations in the FHL1 gene.
The cost of the FHL1 gene test for Emery-Dreifuss muscular dystrophy type 6 at DNA Labs UAE is 4400 AED. This price includes the collection of the sample, the genetic analysis, and a comprehensive report detailing the results and their implications for the patient's health and family planning. Patients considering this test are encouraged to discuss it with their healthcare provider to understand its benefits and limitations fully.
