Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), also known as Van der Knaap disease, is a rare genetic disorder characterized by an abnormally large brain (megalencephaly) along with white matter abnormalities and the formation of cysts in the subcortical area of the brain. This condition leads to a variety of neurological symptoms, including motor function decline, epilepsy, and ataxia. The disease primarily affects children and is caused by mutations in the MLC1 or HEPACAM genes.
To accurately diagnose this condition, the Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test is utilized. This genetic test specifically targets the hotspot mutations within the MLC1 and HEPACAM genes that are commonly associated with the disease. The test is a crucial tool for confirming the diagnosis of MLC, enabling targeted management and therapy for affected individuals.
DNA Labs UAE offers this specialized genetic testing service. The test cost is set at 1290 AED, providing an accessible option for families seeking answers about this rare condition. By identifying the specific mutations causing MLC, this test facilitates a better understanding of the disease's progression and potential interventions.
The Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Mutation Detection Test is a specialized diagnostic examination offered at DNA Labs UAE. Priced at 1290 AED, this test is crucial for identifying the genetic mutations associated with MELAS, a rare mitochondrial disorder. MELAS is characterized by a spectrum of symptoms including muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and stroke-like episodes that can lead to seizures, vision loss, and cognitive impairment. Early and accurate detection through the MELAS Mutation Detection Test allows for appropriate management strategies to be implemented, potentially mitigating the progression of symptoms and improving the quality of life for affected individuals. The test involves analyzing the patient's DNA to identify mutations in mitochondrial genes that are known to cause MELAS, providing a vital tool for diagnosis and family planning advice. Conducted at DNA Labs UAE, this test represents an important step forward in the management of mitochondrial diseases within the region.
The MuSK (Muscle Specific Kinase) Antibody Test is a specialized diagnostic tool used to detect the presence of antibodies against MuSK in the blood. MuSK is a protein essential for the formation and maintenance of the neuromuscular junction, where nerve cells meet muscle cells to control muscle activity. Antibodies against MuSK can disrupt this connection, leading to muscle weakness and fatigue, and are often associated with Myasthenia Gravis (MG), a chronic autoimmune neuromuscular disorder.
The test is particularly crucial for diagnosing MG cases that do not have antibodies against the acetylcholine receptor (AChR), making it an invaluable tool for identifying seronegative Myasthenia Gravis (SNMG). Positive results can help guide treatment decisions, including immunosuppressive therapies that can significantly improve patient outcomes.
At DNA Labs UAE, the MuSK Muscle Specific Kinase Antibody Test is offered at a cost of 1290 AED. The facility ensures accurate and reliable testing, utilizing advanced diagnostic technologies and methodologies to provide timely results. This test is essential for healthcare professionals in diagnosing and managing conditions associated with MuSK antibodies, offering a pathway to better patient care and treatment strategies.
The Newborn Screening Panel Comprehensive Test is a crucial early detection examination conducted at DNA Labs UAE, designed to screen newborns for a wide range of genetic, hormonal, metabolic, and functional conditions that can affect a child's long-term health or survival. Priced at 1290 AED, this comprehensive test aims to identify conditions that, if left untreated, may lead to developmental delays, disability, or even death. Early detection through this screening allows for timely intervention and treatment, significantly improving the quality of life and health outcomes for affected infants. DNA Labs UAE utilizes advanced technologies and methodologies to ensure accurate and reliable results, making it an essential step for new parents in safeguarding their newborn's health.
The PIK3CA Mutation Analysis Test is a specialized diagnostic procedure designed to identify mutations in the PIK3CA gene, which can play a significant role in the development and progression of various cancers, including breast, colorectal, and gynecological cancers. This test is crucial for understanding the genetic landscape of a patient's cancer, which can inform treatment decisions and potentially lead to more targeted and effective therapies.
Performed at DNA Labs UAE, a leading facility in genetic and molecular diagnostics, the test involves analyzing a patient's DNA sample to detect the presence of specific mutations in the PIK3CA gene. The process leverages advanced genetic sequencing technologies to ensure accurate and reliable results.
The cost of the PIK3CA Mutation Analysis Test at DNA Labs UAE is set at 1290 AED. This price reflects the comprehensive nature of the test, covering the sophisticated techniques and expertise required to accurately identify PIK3CA mutations. Patients and healthcare providers considering this test can expect a high level of service and support from DNA Labs UAE, from the initial consultation through to the delivery and interpretation of results.
The SCA-11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test is a specialized genetic test designed to detect mutations in the TTBK2 gene, which are associated with Spinocerebellar Ataxia Type 11 (SCA-11). SCA-11 is a rare, autosomal dominant neurological disorder characterized by progressive ataxia, affecting coordination and balance due to cerebellar degeneration. The TTBK2 gene plays a crucial role in brain development and function, and mutations in this gene can lead to the onset of SCA-11 symptoms, including difficulties with movement and coordination, speech problems, and involuntary eye movements.
Performed at DNA Labs UAE, a leading provider of genetic testing services, this test is essential for individuals with a family history of SCA-11 or those experiencing symptoms suggestive of spinocerebellar ataxias. By identifying the presence of TTBK2 gene mutations, the test aids in the accurate diagnosis of SCA-11, enabling healthcare professionals to offer appropriate genetic counseling and consider potential treatment or management strategies for affected individuals.
The cost of the SCA-11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test is 1290 AED. Given the complexity and the specialized nature of this test, it represents a crucial investment in personal health for those at risk of this genetic condition, facilitating early detection and the possibility of better managing the disorder's progression.
The SCA-14 Spinocerebellar Ataxia PRKCG Gene Mutation Test is a specialized genetic test offered by DNA Labs UAE, designed to detect mutations in the PRKCG gene. This gene is known to be associated with Spinocerebellar Ataxia Type 14 (SCA-14), a rare form of hereditary ataxia. SCA-14 is characterized by progressive difficulty with coordination and balance, resulting from degeneration of the cerebellum in the brain. The test aims to provide a definitive diagnosis for individuals displaying symptoms suggestive of SCA-14 or for those with a family history of the condition, aiding in the management and understanding of the disorder. The cost of the test is 1290 AED, making it accessible for those seeking genetic analysis and counseling in the UAE. This test is crucial for early detection and intervention, potentially improving the quality of life for affected individuals and their families.
The "SCA-23 Spinocerebellar Ataxia PDYN Gene Mutation Test" is a specialized genetic test designed to detect mutations in the PDYN gene, which are associated with Spinocerebellar Ataxia Type 23 (SCA-23). SCA-23 is a rare, neurodegenerative disorder characterized by progressive coordination problems, gait abnormalities, and other cerebellar symptoms. Early and accurate diagnosis through genetic testing is crucial for managing symptoms, planning treatment, and providing genetic counseling.
The test involves analyzing the patient's DNA to identify mutations in the PDYN gene that are known to cause SCA-23. This is crucial for confirming the diagnosis, differentiating SCA-23 from other types of ataxias, and assisting in the clinical management of the condition.
Offered at DNA Labs UAE, the test cost is set at 1290 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by professionals with expertise in genetic testing and counseling, ensuring reliable results and comprehensive support for patients and their families.
The SCA-5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test is a specialized diagnostic tool used to identify mutations in the SPTBN2 gene, which are linked to Spinocerebellar Ataxia Type 5 (SCA-5). SCA-5 is a genetic neurological disorder characterized by progressive problems with movement, balance, and coordination, stemming from degeneration in the cerebellum and its connections. This test is crucial for individuals showing symptoms of SCA-5 or those with a family history of the condition, as it can confirm the diagnosis and aid in the management of the disorder.
Conducted at DNA Labs UAE, a leading facility in genetic testing, the test offers a comprehensive analysis of the SPTBN2 gene. By identifying specific mutations, healthcare providers can better understand the prognosis, tailor treatments to manage symptoms more effectively, and offer genetic counseling to affected families. The cost of the SCA-5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test is 1290 AED, reflecting the specialized nature of the test and the detailed insights it provides into this complex condition.
The SCA-8 Spinocerebellar Ataxia ATXN8OS and ATXN8 Gene Mutation Test is a specialized diagnostic assessment offered at DNA Labs UAE. This test is designed to detect mutations in the ATXN8OS and ATXN8 genes, which are known to be associated with Spinocerebellar Ataxia Type 8 (SCA-8), a neurodegenerative disorder. SCA-8 is characterized by impaired coordination, balance, and speech due to cerebellar atrophy. The condition is inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene can cause the disorder.
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 genetic mutations in the ATXN8OS and ATXN8 genes. The outcome of this test can provide crucial information for the diagnosis, management, and genetic counseling of affected individuals and their families.
The cost of the SCA-8 Spinocerebellar Ataxia ATXN8OS and ATXN8 Gene Mutation Test at DNA Labs UAE is 1290 AED. This test is a valuable resource for individuals with a family history of SCA-8 or those exhibiting symptoms related to the condition, offering them a definitive diagnostic tool to understand their genetic status and take informed steps towards managing their health.
