The POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 genetic test is a specialized diagnostic procedure available at DNA Labs UAE. This test is designed to identify mutations in the POMGNT1 gene, which are linked to a rare form of muscular dystrophy known as dystroglycanopathy congenital with mental retardation type B3. This condition is characterized by congenital muscular dystrophy accompanied by intellectual disabilities and, in some cases, structural brain anomalies.
The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of specific genetic mutations in the POMGNT1 gene. The results of this test can provide crucial information for the diagnosis, management, and treatment planning for affected individuals and their families.
The cost of the POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 genetic test at DNA Labs UAE is 4400 AED. This price may vary depending on additional services or consultations required. Early diagnosis through this genetic test can significantly impact the management of the condition, offering insights into potential therapies and interventions that can improve the quality of life for those affected.
The POMT2 gene plays a crucial role in the development and maintenance of muscle tissue. Mutations in this gene can lead to a specific form of muscular dystrophy known as Dystroglycanopathy, particularly the Limb-Girdle Type C2. This condition is characterized by progressive weakness and wasting of the limb muscles, among other symptoms. Early diagnosis is key to managing the symptoms and improving the quality of life for those affected.
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the POMT2 gene. This test is a vital tool for diagnosing Dystroglycanopathy Limb-Girdle Type C2, enabling healthcare professionals to devise a tailored management plan for the patient. The test is conducted with a sample of the patient's DNA, usually obtained through a blood draw.
The cost of the POMT2 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C2 Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem significant, the value of an accurate diagnosis cannot be overstated, as it opens the door to targeted treatments and interventions. This test is an investment in the patient's health and well-being, providing crucial information for managing this genetic condition.
The POMGNT1 gene muscular dystrophy-dystroglycanopathy limb-girdle type C3 (LGMD2O) genetic test is a specialized diagnostic procedure aimed at identifying mutations in the POMGNT1 gene, which are known to cause a specific form of muscular dystrophy. This condition is characterized by progressive weakness and wasting of the muscles around the shoulders, hips, and thighs, typically known as limb-girdle muscular dystrophy. The test is crucial for confirming the diagnosis, understanding the disease progression, and making informed decisions about treatment and management.
Performed at DNA Labs UAE, the test 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 POMGNT1 gene. The cost of the test is 4400 AED, reflecting the specialized nature of the genetic analysis and the expertise required to interpret the results.
By identifying the specific mutations in the POMGNT1 gene, this genetic test enables personalized treatment plans and helps in predicting the course of the disease. It also provides essential information for family planning and the assessment of the risk of passing the condition on to future generations. DNA Labs UAE offers comprehensive support and guidance throughout the testing process, ensuring patients and their families receive the necessary information and care.
The "DAG1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C9 Genetic Test" is a specialized diagnostic assessment performed to identify mutations in the DAG1 gene, which are associated with Limb-Girdle Muscular Dystrophy Type C9 (LGMD2I). This condition is part of a broader group of genetic disorders known as dystroglycanopathies, which affect the muscle's ability to attach to the surrounding extracellular matrix, leading to progressive muscle weakness and degeneration primarily in the shoulder and hip areas.
This genetic test is crucial for confirming a clinical diagnosis, understanding the disease's progression, and informing treatment options. It involves analyzing the patient's DNA to look for specific mutations in the DAG1 gene that are known to cause the disorder. The test is offered at DNA Labs UAE, a reputable facility equipped with advanced genetic testing technologies to ensure accurate and reliable results.
The cost of the DAG1 Gene Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C9 Genetic Test at DNA Labs UAE is 4400 AED. This price may cover the genetic analysis, professional interpretation of the results, and a comprehensive report that can be used by healthcare providers to tailor the management and treatment plans for affected individuals. Patients considering this test are advised to consult with their healthcare providers to understand its benefits and implications fully.
The CAPN1 gene plays a crucial role in the development and maintenance of the musculoskeletal system. Mutations in the CAPN1 gene can lead to a variety of muscular and skeletal disorders, which can significantly impact an individual's quality of life. These disorders are typically characterized by muscle weakness, atrophy, and sometimes skeletal abnormalities. Early detection and diagnosis through genetic testing are essential for managing symptoms and improving outcomes.
DNA Labs UAE offers a specialized genetic test aimed at identifying mutations in the CAPN1 gene. This test is a vital tool for individuals experiencing symptoms of muscular-skeletal disorders or those with a family history of such conditions. By analyzing the genetic makeup of an individual, the test can confirm the presence of CAPN1 gene mutations, providing crucial information for diagnosis and treatment planning.
The cost of the CAPN1 related genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect any abnormalities associated with the CAPN1 gene. Results from this test can guide healthcare providers in developing personalized management plans, including physical therapy, medication, or other interventions aimed at improving patient outcomes. Early diagnosis through this genetic test can be instrumental in enhancing the quality of life for individuals affected by CAPN1 gene-related muscular-skeletal disorders.
The GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 genetic test is a specialized diagnostic procedure available at DNA Labs UAE. This test is designed to identify mutations in the GFPT1 gene, which have been linked to a rare form of congenital myasthenia. Congenital myasthenia is a group of conditions that result in muscle weakness and fatigue, often from birth. The specific subtype associated with mutations in the GFPT1 gene is characterized by the presence of tubular aggregates in muscle cells, which can be observed under a microscope.
The test involves collecting a DNA sample, typically through a blood draw, and analyzing it for specific genetic variations in the GFPT1 gene that are known to cause the condition. This genetic testing is crucial for the accurate diagnosis and management of patients with suspected congenital myasthenia, as it helps in tailoring the most effective treatment strategies for the individual.
At DNA Labs UAE, the cost of the GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 genetic test is 4400 AED. This price includes the full testing procedure and a comprehensive report of the findings. By opting for this test, patients and their families can gain valuable insights into their genetic makeup, enabling them to make informed decisions about their health and care plans.
The MUSK Gene Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency Genetic Test is a specialized diagnostic tool designed to identify mutations in the MUSK gene, which are associated with a rare form of myasthenia gravis. This condition is characterized by muscle weakness and fatigue, primarily caused by an impairment in the transmission of signals between nerves and muscles. Unlike the more common forms of myasthenia gravis that involve antibodies against the acetylcholine receptor (AChR), this syndrome involves antibodies that target the muscle-specific kinase (MuSK), leading to a reduction in AChR at the neuromuscular junction.
The test, which costs 4400 AED, is available at DNA Labs UAE, a facility known for its advanced genetic testing capabilities. Through a detailed analysis of the patient's DNA, the test aims to identify any genetic alterations in the MUSK gene that may contribute to the development of this syndrome. The results can provide crucial information for the accurate diagnosis and tailored treatment of affected individuals, potentially improving their quality of life by managing symptoms more effectively. Given the complexity and rarity of this condition, the genetic test represents a significant step forward in the personalized medicine approach to treating neuromuscular disorders.
The SCN4A gene myasthenic syndrome is a rare genetic condition characterized by muscle weakness and fatigue. This condition is caused by mutations in the SCN4A gene, which plays a crucial role in the normal functioning of muscle cells. The SCN4A gene encodes a component of sodium channels that are essential for the transmission of electrical signals in muscle cells, facilitating muscle contraction. Mutations in this gene can disrupt the normal flow of sodium ions, leading to the symptoms associated with the syndrome.
To diagnose this condition, a specific genetic test is available that identifies mutations in the SCN4A gene. This test is crucial for confirming the diagnosis, understanding the severity of the condition, and guiding treatment decisions. The test involves collecting a DNA sample, usually through a blood draw, and analyzing the genetic material for mutations in the SCN4A gene.
In the United Arab Emirates, this genetic test is offered by DNA Labs UAE, a reputable facility known for its advanced diagnostic services. The cost of the SCN4A gene myasthenic syndrome genetic test at DNA Labs UAE is 4400 AED. This test is a valuable tool for individuals experiencing symptoms of muscle weakness and fatigue, providing them with a definitive diagnosis and enabling them to seek appropriate treatment and management strategies for their condition.
The POLG gene mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy genetic test is a specialized diagnostic tool available at DNA Labs UAE. Priced at 4400 AED, this test focuses on identifying mutations in the POLG gene, which are associated with a rare condition known as mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome. Unlike the typical form of MNGIE, this specific testing is aimed at cases where leukoencephalopathy, or white matter brain disease, is not present, making it a crucial tool for accurate diagnosis in such unique circumstances. The POLG gene plays a significant role in the replication and repair of mitochondrial DNA; mutations in this gene can lead to various mitochondrial disorders, including MNGIE. This test is essential for guiding treatment strategies and understanding the prognosis for affected individuals.
The TYMP gene mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) without leukoencephalopathy genetic test is a specialized diagnostic procedure offered by DNA Labs UAE. This test is designed to detect mutations in the TYMP gene, which are responsible for a rare condition known as mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) without the characteristic white matter brain changes typically seen in this disorder, known as leukoencephalopathy. MNGIE is a progressive, autosomal recessive metabolic disorder characterized by a range of symptoms including gastrointestinal dysmotility, peripheral neuropathy, ptosis, and progressive external ophthalmoplegia, among others.
The absence of leukoencephalopathy in some patients can make diagnosis challenging, necessitating the use of genetic testing to confirm the presence of TYMP gene mutations. The test involves analyzing the patient's DNA, extracted from a blood sample, to identify mutations in the TYMP gene that are indicative of MNGIE.
At DNA Labs UAE, this comprehensive genetic test is offered at a cost of 4400 AED. It is a critical tool for healthcare professionals in diagnosing MNGIE without leukoencephalopathy, allowing for appropriate management and treatment plans to be devised based on the genetic findings. The test is conducted with strict confidentiality and precision, ensuring patients receive accurate and actionable results.
