The SLC6A5 gene hyperekplexia genetic test is a specialized diagnostic tool designed to identify mutations in the SLC6A5 gene, which are known to cause hyperekplexia. Hyperekplexia, also known as startle disease, is a rare genetic disorder characterized by an exaggerated startle response to sudden stimuli, stiffness, and, in severe cases, apnea and sudden infant death. The condition is primarily inherited in an autosomal dominant manner, though autosomal recessive inheritance has also been observed.
The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed to detect any genetic alterations in the SLC6A5 gene. Identifying these mutations can confirm a diagnosis of hyperekplexia, allowing for appropriate management and treatment of the condition. It can also provide valuable information for family planning and genetic counseling for affected families.
In the UAE, this specific genetic test is available at DNA Labs UAE, a leading facility in genetic testing and personalized medicine. The cost of the SLC6A5 gene hyperekplexia genetic test at DNA Labs UAE is set at 4400 AED. This test is crucial for individuals with a family history of hyperekplexia or those exhibiting symptoms of the disorder, providing them with a definitive diagnosis and guiding their treatment plans.
The ARHGEF9 gene is associated with a range of neurological disorders, including hyperekplexia and Early Infantile Epileptic Encephalopathy 8 (EIEE8). Hyperekplexia is characterized by an exaggerated startle response to unexpected stimuli, while EIEE8 is a severe form of epilepsy that presents in infancy, often leading to developmental delays and intellectual disability. Mutations in the ARHGEF9 gene disrupt the normal functioning of inhibitory synapses in the brain, leading to these conditions.
To diagnose and understand these conditions better, genetic testing targeting the ARHGEF9 gene can be conducted. DNA Labs UAE offers a comprehensive ARHGEF9 Gene Hyperekplexia EIEE8 Related Genetic Test. This test is designed to identify mutations in the ARHGEF9 gene that are known to cause hyperekplexia and EIEE8, providing essential information for accurate diagnosis and management of the conditions.
The cost of the ARHGEF9 Gene Hyperekplexia EIEE8 Related Genetic Test at DNA Labs UAE is 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 for the presence of mutations in the ARHGEF9 gene. Results from this test can guide healthcare providers in developing a tailored treatment plan for affected individuals and offer families important insights into the genetic nature of these conditions.
The SCN4A gene hyperkalemic periodic paralysis genetic test is a specialized diagnostic procedure aimed at identifying mutations in the SCN4A gene, which are associated with hyperkalemic periodic paralysis (HyperPP). HyperPP is a rare genetic disorder characterized by episodes of muscle weakness or paralysis, often triggered by elevated potassium levels in the blood. 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.
This test is crucial for individuals who exhibit symptoms of HyperPP or have a family history of the condition, as it can provide a definitive diagnosis. Early identification of the disorder is vital for managing symptoms, preventing potential complications, and making informed decisions about family planning.
The test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The cost of the SCN4A gene hyperkalemic periodic paralysis genetic test is 4400 AED. The test involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the SCN4A gene.
Upon completion, the results can offer critical insights into the genetic underpinnings of the individual's condition, enabling personalized treatment plans and lifestyle adjustments to better manage the symptoms of hyperkalemic periodic paralysis.
The GCH1 Gene Hyperphenylalaninemia BH4-Deficient B Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to detect mutations in the GCH1 gene, which are associated with BH4-deficient Hyperphenylalaninemia (HPA) type B. This condition is a rare metabolic disorder characterized by elevated levels of phenylalanine in the blood, due to a deficiency in tetrahydrobiopterin (BH4), a cofactor essential for the metabolism of several amino acids, including phenylalanine. Early detection and treatment are crucial to prevent developmental delays and neurological issues associated with the condition.
The test involves analyzing the patient's DNA to identify any genetic variations in the GCH1 gene that may lead to the dysfunction of BH4 synthesis. It is a critical tool for clinicians in the diagnosis and management of patients with suspected BH4-deficient Hyperphenylalaninemia, allowing for timely intervention and personalized treatment plans.
DNA Labs UAE offers this comprehensive genetic testing service at a cost of 4400 AED. The test is conducted in their state-of-the-art facilities, ensuring high-quality, reliable results for patients and healthcare providers.
The CACNA1S gene hypokalemic periodic paralysis type 1 genetic test is a specialized diagnostic tool used to identify mutations in the CACNA1S gene, which are linked to hypokalemic periodic paralysis type 1 (HypoPP1). This condition is characterized by episodes of muscle weakness or paralysis, often triggered by factors such as rest after exercise, high carbohydrate meals, or stress, due to abnormally low levels of potassium in the blood (hypokalemia). The test is crucial for confirming the diagnosis, allowing for appropriate management and treatment strategies to be implemented.
Performed at DNA Labs UAE, a leading facility in genetic testing, this test involves analyzing the patient's DNA sample, typically collected through a blood draw, to search for specific genetic alterations in the CACNA1S gene known to cause the disorder. The presence of these mutations can confirm the diagnosis of HypoPP1, enabling affected individuals and their families to receive tailored advice on managing the condition, including preventive measures for avoiding triggers and potential treatments to alleviate symptoms.
The cost of the CACNA1S gene hypokalemic periodic paralysis type 1 genetic test at DNA Labs UAE is 4400 AED. This price reflects the sophisticated technology and expertise required to accurately identify mutations in the CACNA1S gene and provide individuals with reliable results. By opting for this test, patients gain crucial insights into their condition, empowering them with the knowledge needed to manage their health effectively.
The GNE Gene Inclusion Body Myopathy Genetic Test is a specialized diagnostic tool used to detect mutations in the GNE gene, which are responsible for a rare genetic disorder known as Inclusion Body Myopathy 2 (IBM2), also referred to as GNE Myopathy or Nonaka Myopathy. This condition is characterized by progressive muscle weakness and wasting, primarily affecting the lower limbs initially and then progressing to involve upper limbs and other muscle groups.
The test is conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing capabilities. By analyzing a patient's DNA sample, usually obtained through a blood draw, the test identifies specific mutations in the GNE gene that cause the disorder. This precise genetic insight is crucial for confirming a diagnosis, which can then guide treatment decisions, inform patients about the progression of the disease, and help families understand the risk of inheritance.
The cost of the GNE Gene Inclusion Body Myopathy Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem steep, the value of obtaining a definitive diagnosis and the potential to tailor a patient's care plan specifically to their genetic makeup makes it a worthwhile investment for those affected by this condition. Early diagnosis through genetic testing can significantly impact the management of the disease and improve the quality of life for individuals with GNE Myopathy.
The MYH2 gene inclusion body myopathy genetic test is a specialized diagnostic tool used to identify mutations in the MYH2 gene, which are associated with a rare form of muscle disease known as inclusion body myopathy. This condition is characterized by progressive muscle weakness and wasting, particularly affecting the muscles closest to the center of the body. Early and accurate diagnosis through genetic testing is crucial for managing the symptoms and planning appropriate treatment strategies.
Performed at DNA Labs UAE, the test involves analyzing the patient's DNA to detect specific mutations in the MYH2 gene that are linked to the development of inclusion body myopathy. The process is highly precise, offering individuals and their healthcare providers valuable insights into the genetic underpinnings of the condition.
The cost of the MYH2 gene inclusion body myopathy genetic test at DNA Labs UAE is 4400 AED. While the price may seem high, the test provides essential information for the proper diagnosis and management of the condition, potentially improving the quality of life for those affected. Patients considering this test are advised to consult with their healthcare provider to discuss its benefits and implications fully.
The TTN Gene Hereditary Myopathy with Early Respiratory Failure (HMERF) Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the TTN gene, which are associated with the development of HMERF. This condition is characterized by progressive muscle weakness, primarily affecting the skeletal muscles and leading to early respiratory failure due to diaphragmatic weakness. The test is crucial for individuals exhibiting symptoms of HMERF or those with a family history of the condition, as early detection can significantly impact management and treatment strategies.
Conducted through a blood sample, the test specifically looks for genetic abnormalities within the titin (TTN) gene, which plays a vital role in muscle elasticity and function. The accuracy and reliability of the test make it a valuable tool in the diagnosis of HMERF, enabling healthcare providers to tailor treatment plans to the individual's genetic profile.
The cost of the TTN Gene Hereditary Myopathy with Early Respiratory Failure Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect any mutations in the TTN gene, offering patients and their families critical insights into their condition and guiding future healthcare decisions.
The FLNA Gene Heterotopia Periventricular X-Linked Dominant Genetic Test is a specialized diagnostic assessment designed to identify mutations in the FLNA gene, which are associated with X-linked periventricular heterotopia (PVNH). This condition is characterized by the abnormal localization of neurons in the brain, leading to a range of neurological symptoms, including epilepsy, developmental delays, and sometimes, issues with coordination and muscle tone. Given the X-linked dominant inheritance pattern, mutations in the FLNA gene can significantly impact both males and females, though the severity and presentation can vary widely.
Conducted at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services, this test aims to provide crucial information for the diagnosis and management of individuals suspected of having PVNH. The process involves collecting a DNA sample, typically through a blood draw, which is then analyzed for specific mutations in the FLNA gene that are indicative of the disorder.
The cost of the FLNA Gene Heterotopia Periventricular X-Linked Dominant Genetic Test is 4400 AED. This price reflects the comprehensive nature of the test, encompassing the sophisticated techniques used to detect gene mutations, as well as the expertise required to interpret the results accurately. For families affected by neurological conditions or for individuals showing symptoms related to PVNH, this test offers a valuable tool for understanding the genetic basis of the condition and guiding treatment and management decisions.
The RNF39 gene is implicated in various neurological functions, including the process of hippocampal long-term potentiation (LTP), which is fundamental for learning and memory. The RNF39-related genetic test is a specialized diagnostic tool designed to identify mutations or alterations in the RNF39 gene that may affect cognitive functions and neurological health. This test is particularly relevant for individuals experiencing cognitive impairments, memory issues, or other neurological symptoms that could be linked to genetic abnormalities affecting hippocampal LTP.
Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test offers a comprehensive analysis of the RNF39 gene. The cost of the test is 4400 AED, reflecting the advanced technology and expertise required to accurately identify and interpret genetic variations. By undergoing this test, individuals can gain valuable insights into their genetic makeup, potentially leading to personalized treatment plans or interventions to address any identified issues. DNA Labs UAE ensures confidentiality and provides detailed consultations to help individuals understand their results and the implications for their health and well-being.
