The CHRNB2 gene is associated with a condition known as Epilepsy, nocturnal frontal lobe type 3 (ENFL3), a disorder characterized by seizures that often occur during sleep. These seizures can manifest as sudden arousals from sleep with motor activity, such as bicycling movements of the legs and hyperkinetic complex movements, often accompanied by vocalizations. This condition is linked to mutations in the CHRNB2 gene, which encodes a subunit of the neuronal nicotinic acetylcholine receptor. These receptors are critical for the proper conduction of signals in the brain, and mutations can disrupt normal neuronal activity, leading to seizures.
Genetic testing for mutations in the CHRNB2 gene can be crucial for the diagnosis and management of ENFL3. By identifying specific genetic alterations, healthcare providers can offer more personalized treatment plans and advice on managing the condition. Moreover, genetic testing can help to confirm a diagnosis when the clinical presentation is unclear and can also provide valuable information for family planning.
In the United Arab Emirates, DNA Labs UAE offers a genetic test specifically targeting the CHRNB2 gene to identify mutations associated with Epilepsy, nocturnal frontal lobe type 3. The cost of the test is 4400 AED. This specialized test is performed in a state-of-the-art laboratory setting by experienced professionals, ensuring high-quality, reliable results. By opting for this test, individuals and families affected by or at risk of ENFL3 can gain crucial insights into their condition, paving the way for informed decisions about treatment and management.
The MT-TR gene encephalomyopathy mitochondrial MT-TR related genetic test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the MT-TR gene that are associated with mitochondrial encephalomyopathy. This condition is a complex mitochondrial disorder characterized by neurological and muscular impairments, resulting from dysfunctional energy production in the mitochondria. The MT-TR gene plays a crucial role in the mitochondrial function, and mutations in this gene can lead to a range of symptoms, including muscle weakness, neurological deficits, and systemic energy metabolism issues.
The test involves analyzing the patient's DNA to detect mutations in the MT-TR gene, providing valuable information for diagnosis, prognosis, and treatment planning. It is a critical tool for clinicians in the management of patients with suspected mitochondrial disorders, offering insights that can guide personalized treatment approaches.
DNA Labs UAE offers this comprehensive genetic test for a cost of 4400 AED. The test is conducted in their state-of-the-art laboratory facilities, where they utilize advanced genetic sequencing technologies to ensure accurate and reliable results. Patients considering this test are usually referred by their healthcare provider based on clinical symptoms and family history suggestive of mitochondrial encephalomyopathy. The results from this test can significantly impact patient care, offering a clearer understanding of the disease mechanism and potential therapeutic interventions.
The VDAC1 Gene Encephalopathy Mitochondrial Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the VDAC1 gene that are associated with mitochondrial encephalopathy, a complex condition characterized by brain dysfunction along with muscle weakness and other systemic symptoms. Mitochondrial encephalopathies are a group of disorders that arise from defects in mitochondrial function, crucial for energy production in cells. The VDAC1 gene plays a significant role in the regulation of mitochondrial membrane potential and apoptosis, making its mutations potentially impactful on cellular energy metabolism and neuronal health.
This test is particularly vital for individuals presenting symptoms of mitochondrial encephalopathy or those with a family history of the condition, as it provides crucial information for diagnosis, management, and treatment planning. Conducted at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services, the test ensures accuracy and reliability in results. The cost of the VDAC1 Gene Encephalopathy Mitochondrial Genetic Test is 4400 AED, reflecting the sophisticated technology and expertise involved in conducting the analysis and interpreting the results. For patients and families, this test represents a step towards understanding their genetic makeup and managing the implications of mitochondrial diseases with a more targeted approach.
The "COX10 Gene Encephalopathy Mitochondrial with Proximal Renal Tubulopathy due to Cytochrome c Oxidase Deficiency Genetic Test" is a specialized diagnostic assessment conducted to identify mutations in the COX10 gene. These mutations are associated with a rare genetic condition that affects mitochondrial function, leading to symptoms such as encephalopathy, a condition affecting the brain, and proximal renal tubulopathy, a disorder impacting the kidney's ability to reabsorb essential substances. Cytochrome c oxidase is a crucial enzyme for the mitochondrial respiratory chain, and its deficiency can result in a broad spectrum of clinical manifestations, including muscle weakness, lactic acidosis, and neurological deficits.
This test is crucial for individuals presenting symptoms suggestive of the disorder, as early diagnosis can guide treatment options and management strategies to improve quality of life. The test involves analyzing the patient's DNA to look for specific mutations in the COX10 gene that are known to cause the disorder. Conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing services, the cost of the test is set at 4400 AED. DNA Labs UAE employs state-of-the-art technology and adheres to strict quality control measures to ensure accurate and reliable results, providing essential information for the diagnosis, treatment, and management of patients affected by this rare condition.
The "MECP2 Gene Encephalopathy Neonatal Severe Genetic Test" is a specialized diagnostic examination offered by DNA Labs UAE, designed to detect mutations in the MECP2 gene, which are associated with severe neurological disorders manifesting shortly after birth. MECP2 gene mutations are primarily linked to Rett syndrome and other related encephalopathies, which can severely impact an individual's neurological development and function. These conditions often present with symptoms such as intellectual disability, motor challenges, communication difficulties, and sometimes, seizures.
The test involves analyzing the patient's DNA to identify any abnormalities in the MECP2 gene that could lead to these severe conditions. It is particularly crucial for early diagnosis and management of the symptoms, allowing for tailored therapies and interventions that can significantly improve the quality of life for affected individuals and their families.
Priced at 4400 AED, the test is conducted at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services. The cost reflects the sophisticated technology and expertise required to accurately diagnose such complex genetic conditions. By choosing this test, patients and healthcare providers are taking a critical step towards understanding and managing MECP2 gene-related encephalopathies, armed with the knowledge necessary for personalized treatment planning.
SLC19A3 gene encephalopathy, also known as thiamine metabolism dysfunction syndrome 2 (THMD2), is a rare genetic condition characterized by a range of neurological symptoms. This condition is caused by mutations in the SLC19A3 gene, which plays a crucial role in thiamine (vitamin B1) transport within the body. Thiamine is essential for energy production and normal neuronal function. When its transport is impaired due to mutations in the SLC19A3 gene, it can lead to a spectrum of neurological manifestations including seizures, developmental delay, and in severe cases, encephalopathy.
Recognizing and diagnosing SLC19A3 gene encephalopathy early is critical, as it is a condition that can respond to high doses of thiamine and biotin, potentially improving neurological outcomes. To facilitate this, genetic testing is available and is a key tool in the diagnostic process. The test specifically looks for mutations in the SLC19A3 gene that are known to cause the disorder.
In the UAE, DNA Labs offers a comprehensive genetic test for diagnosing SLC19A3 gene encephalopathy. The test is meticulously designed to identify the genetic mutations associated with this condition, providing essential information for an accurate diagnosis. The cost of the test is 4400 AED, reflecting the specialized nature of the analysis and the significant impact it can have on patient care. Conducted in a state-of-the-art facility, DNA Labs UAE ensures high-quality testing standards, providing patients and healthcare providers with reliable and actionable genetic insights that can guide treatment decisions and improve patient outcomes.
The "TRAF3 Gene Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility to Type 5 Genetic Test" is a specialized diagnostic assessment available at DNA Labs UAE. This test is designed to identify individuals who have a genetic predisposition to developing encephalopathy, a serious and potentially life-threatening brain inflammation, following acute infection with type 5 herpes simplex virus. This condition is attributed to specific mutations in the TRAF3 gene, which plays a critical role in the immune system's response to viral infections.
Understanding one's genetic susceptibility to this condition is crucial for implementing preventative measures and tailoring treatment strategies in the event of an infection. The test is particularly recommended for individuals with a family history of herpes-induced encephalopathy or unexplained cases of encephalitis following viral infections.
The test is priced at 4400 AED and is conducted at DNA Labs UAE, a facility known for its advanced genetic testing capabilities and commitment to providing accurate and comprehensive diagnostic services. This test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for the presence of mutations in the TRAF3 gene that are associated with an increased risk of herpes-specific encephalopathy. Results from this test can provide invaluable information for affected individuals and their families, guiding healthcare decisions and interventions.
RANBP2 Gene Encephalopathy Acute Necrotizing Type 1 is a rare genetic disorder characterized by severe neurological symptoms, including encephalopathy, which is a brain disease that leads to decreased brain function. This condition is linked to mutations in the RANBP2 gene. The genetic test for this condition is crucial for accurate diagnosis, allowing for appropriate management and treatment of the affected individuals.
At DNA Labs UAE, the genetic test for RANBP2 Gene Encephalopathy Acute Necrotizing Type 1 is available. This test involves analyzing the patient's DNA to detect mutations in the RANBP2 gene that are associated with the disease. The process is comprehensive and ensures a reliable diagnosis, which is essential for guiding treatment decisions and providing prognostic information.
The cost of the test is 4400 AED. This investment covers the entire testing process, from sample collection to detailed genetic analysis and reporting. By choosing DNA Labs UAE for this test, patients and healthcare providers can expect accurate and timely results, which are critical for managing this severe genetic disorder effectively.
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.
