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.
The SLC13A5 gene plays a crucial role in the human body, particularly in the transport of citrate across cell membranes. Mutations in this gene can lead to a rare neurological condition known as Early Infantile Epileptic Encephalopathy Type 25 (EIEE25). This condition is characterized by frequent seizures that begin in the first days of life, developmental delay, and other neurological issues. Given the severity and rarity of EIEE25, accurate diagnosis is critical for managing the condition and providing appropriate care and support to affected individuals and their families.
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the SLC13A5 gene, which is pivotal for diagnosing EIEE25. This test involves analyzing the patient's DNA to look for abnormalities in the SLC13A5 gene that are known to cause the condition. The cost of the test is 4400 AED, a price that reflects the specialized nature of the analysis and the profound impact that a precise diagnosis can have on treatment plans and quality of life for affected individuals.
Opting for this test at DNA Labs UAE provides patients and healthcare providers with crucial information that can lead to a better understanding of the condition, enabling tailored treatment approaches, and offering insights into potential genetic counseling for families. The lab's expertise in genetic diagnostics ensures a high level of accuracy and reliability in the test results, making it a valuable resource for those dealing with the challenges of EIEE25.
The KCNB1 gene plays a crucial role in the proper functioning of the nervous system, and mutations in this gene are associated with early infantile epileptic encephalopathy type 26 (EIEE26). This condition is characterized by frequent seizures that begin in infancy, along with various degrees of developmental delay and sometimes additional neurological symptoms. Given the significant impact this condition can have on affected individuals and their families, genetic testing for mutations in the KCNB1 gene is an important diagnostic tool.
DNA Labs UAE offers a specialized genetic test aimed at identifying mutations within the KCNB1 gene to confirm a diagnosis of early infantile epileptic encephalopathy type 26. This test is crucial for affected families, as it not only aids in the diagnosis but also helps in guiding treatment decisions and understanding the prognosis. Furthermore, it can provide valuable information for genetic counseling, particularly for family planning and assessing the risk of recurrence in future pregnancies.
The test cost is 4400 AED, reflecting the specialized nature of the genetic analysis and the expertise required to accurately interpret the results. Conducted in a state-of-the-art laboratory by professionals skilled in genetic diagnostics, this test represents a significant step forward for families seeking answers in the face of challenging neurological conditions.
