The COL6A2 gene is associated with a rare genetic disorder known as Bethlem myopathy, a condition characterized by muscle weakness and joint stiffness that typically begins in childhood. This disorder is caused by mutations in the COL6A2 gene, which is crucial for the production of collagen VI, a protein that plays a significant role in the structure and function of skeletal muscles and skin.
To diagnose Bethlem myopathy, a genetic test targeting the COL6A2 gene can be performed. This test involves analyzing the DNA to identify mutations in the COL6A2 gene that are responsible for the condition. Early diagnosis through genetic testing is crucial for the management and treatment of Bethlem myopathy, allowing for interventions that can improve quality of life and slow the progression of symptoms.
In the United Arab Emirates, DNA Labs UAE offers the COL6A2 Gene Bethlem Myopathy Genetic Test. The cost of the test is 4400 AED. DNA Labs UAE is equipped with advanced genetic testing technologies and staffed by experts in the field, ensuring accurate and reliable results. Opting for this test at DNA Labs UAE provides individuals and families with crucial information regarding the diagnosis and potential genetic counseling needs related to Bethlem myopathy.
The COL6A3 gene Bethlem Myopathy Type 1 Genetic Test is a specialized diagnostic procedure designed to identify mutations in the COL6A3 gene, which are associated with Bethlem Myopathy Type 1, a rare inherited connective tissue disorder. This condition is characterized by muscle weakness, joint stiffness, and skin abnormalities, and it typically manifests in early childhood but can vary in severity.
Performed at DNA Labs UAE, a leading facility in genetic diagnostics, this test involves analyzing the patient's DNA to detect specific genetic alterations in the COL6A3 gene that are known to cause Bethlem Myopathy Type 1. The test is crucial for accurate diagnosis, enabling personalized treatment plans, and providing valuable information for family planning.
The cost of the COL6A3 gene Bethlem Myopathy Type 1 Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive nature of the test, including the sophisticated technology and expertise required to accurately identify the genetic markers associated with the condition. By opting for this test, patients and their families can gain insights into the genetic basis of the disorder, facilitating better management and improving quality of life.
The COL12A1 gene plays a crucial role in the structure and function of connective tissues. Mutations in this gene are associated with Bethlem myopathy type 2, a rare genetic disorder characterized by muscle weakness, joint stiffness, and skin abnormalities. To diagnose this condition, genetic testing is available at DNA Labs UAE, where a specific test targets the COL12A1 gene to identify mutations indicative of Bethlem myopathy type 2. The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the lab. This genetic test is essential for confirming the diagnosis, understanding the inheritance pattern, and guiding management and treatment options for affected individuals and their families.
The PHF6 gene Borjeson-Forssman-Lehmann Syndrome (BFLS) genetic test is a specialized diagnostic procedure available at DNA Labs UAE. BFLS is a rare X-linked intellectual disability syndrome characterized by various physical and developmental anomalies. This condition is primarily associated with mutations in the PHF6 gene. The genetic test is designed to detect these mutations, providing crucial information for accurate diagnosis, management, and genetic counseling for affected families.
Priced at 4400 AED, the test involves analyzing the patient's DNA to identify any abnormalities in the PHF6 gene that could indicate the presence of Borjeson-Forssman-Lehmann Syndrome. This test is vital for families with a history of the condition or when symptoms suggestive of BFLS are observed in individuals. By confirming the diagnosis, healthcare providers can offer targeted interventions and support, improving the quality of life for those affected by the syndrome.
The ATP2A1 gene plays a crucial role in muscle function and is associated with Brody myopathy, a rare genetic disorder characterized by muscle stiffness and fatigue following exercise. The disorder results from mutations in the ATP2A1 gene, which encodes an enzyme crucial for muscle relaxation. Identifying mutations in this gene is essential for diagnosing Brody myopathy accurately.
DNA Labs UAE offers a genetic test specifically designed to detect mutations in the ATP2A1 gene, aiding in the diagnosis of Brody myopathy. The test is conducted through a detailed analysis of the individual's genetic material, usually obtained via a blood sample. This test is pivotal for individuals experiencing symptoms of Brody myopathy or those with a family history of the condition, as it can confirm the diagnosis and facilitate appropriate management and treatment plans.
The cost of the ATP2A1 gene test for Brody myopathy at DNA Labs UAE is 4400 AED. This investment covers the comprehensive genetic analysis and the professional interpretation of the results, ensuring individuals and their healthcare providers have the necessary information for an informed approach to managing the condition.
The MAOA gene, also known as the "warrior gene," has been linked to various behavioral and psychological conditions, including the rare Brunner syndrome. Brunner syndrome is characterized by impulsive and sometimes aggressive behavior, often attributed to low levels of the enzyme monoamine oxidase A, which is crucial for breaking down neurotransmitters in the brain. The genetic test for Brunner syndrome involves analyzing the MAOA gene to identify mutations that can lead to the condition.
DNA Labs UAE offers a specialized genetic test to diagnose Brunner syndrome by examining the MAOA gene. This test is crucial for individuals with a family history of the syndrome or those exhibiting its symptoms, as it can provide definitive answers and guide treatment options. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately analyze and interpret the genetic data. Conducted in a state-of-the-art facility, the test is a valuable tool for understanding and managing the implications of the MAOA gene mutation.
The F5 Gene Budd-Chiari Syndrome Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the F5 gene, which have been associated with an increased risk of Budd-Chiari Syndrome (BCS). BCS is a rare vascular disorder characterized by the obstruction of the hepatic veins, which can lead to liver damage, and in severe cases, liver failure. The condition is complex, with genetic factors playing a crucial role in its development alongside environmental influences.
This genetic test is crucial for individuals with a family history of BCS or those exhibiting symptoms related to liver dysfunction, as it can provide valuable insights into their risk of developing this condition. Early detection through genetic testing allows for timely intervention and management strategies to mitigate the risk of severe complications associated with BCS.
The test is conducted at DNA Labs UAE, a state-of-the-art facility known for its advanced genetic testing services. The cost of the F5 Gene Budd-Chiari Syndrome Genetic Test is 4400 AED. Given the specialized nature of this test and its potential to significantly impact patient care, it represents a valuable investment in one's health, particularly for those at increased risk of this syndrome.
The ASPA Gene Canavan Disease Genetic Test is a specialized diagnostic tool used to identify mutations in the ASPA gene, which are responsible for Canavan disease. Canavan disease is a rare inherited disorder that causes progressive damage to nerve cells in the brain. This condition is particularly prevalent in individuals of Ashkenazi Jewish descent, but it can affect people from any ethnic background.
The test is conducted by extracting a DNA sample, typically through a blood draw or cheek swab, and analyzing it for specific genetic mutations in the ASPA gene. These mutations lead to a deficiency in the enzyme aspartoacylase, which is crucial for maintaining healthy brain tissue. The absence or malfunction of this enzyme results in the accumulation of N-acetylaspartic acid (NAA) in the brain, causing the progressive neurological symptoms observed in Canavan disease.
Offered by DNA Labs UAE, the ASPA Gene Canavan Disease Genetic Test is available for a cost of 4400 AED. DNA Labs UAE is a reputable facility known for its state-of-the-art genetic testing services. The test provides crucial information for prospective parents with a family history of Canavan disease, individuals of Ashkenazi Jewish heritage, or parents of children showing symptoms related to the disease. Early diagnosis through this genetic test can aid in management and treatment planning, although there is currently no cure for Canavan disease. The test is also an essential tool for carrier screening, allowing individuals to understand their carrier status and assess the risk of passing the condition onto their children.
The "SLC9A9 Gene Autism Susceptibility Type 16 Genetic Test" is a specialized diagnostic tool aimed at identifying the presence of specific genetic variations in the SLC9A9 gene that are associated with an increased risk of developing autism spectrum disorder (ASD). This test is particularly focused on a subtype of autism known as Autism Susceptibility Type 16, which is linked to mutations or abnormalities within the SLC9A9 gene.
The SLC9A9 gene plays a critical role in the regulation of endosomal pH and is involved in neuronal signaling and function, which are essential for normal cognitive and social development. Variations in this gene can disrupt these processes, potentially leading to the development of ASD.
Conducted at DNA Labs UAE, a reputable genetic testing facility known for its advanced diagnostic technologies and expertise in genetic disorders, this test provides a valuable resource for families seeking to understand their genetic predisposition to autism. By identifying specific genetic markers associated with ASD, it can help in early diagnosis, personalized treatment planning, and management strategies tailored to the individual's genetic profile.
The cost of the "SLC9A9 Gene Autism Susceptibility Type 16 Genetic Test" at DNA Labs UAE is set at 4400 AED. This price reflects the comprehensive nature of the test, including the sophisticated analysis required to detect the relevant genetic variations accurately. While the cost may be significant, the insights gained from this test can be invaluable for affected families, offering a clearer understanding of their genetic makeup and how it may influence the development of ASD.
The "CHD8 Gene Autism Susceptibility Type 18 Genetic Test" is a specialized diagnostic assessment designed to identify mutations in the CHD8 gene, which have been linked to an increased risk of autism spectrum disorder (ASD). This particular gene plays a critical role in brain development and function, and mutations or alterations in CHD8 can contribute to the development of ASD, characterized by challenges in social interaction, communication, and repetitive behaviors.
Conducted at DNA Labs UAE, a leading facility in genetic testing and analysis, this test involves collecting a DNA sample, typically through a blood draw or cheek swab, to analyze the specific sequences of the CHD8 gene. The aim is to detect any genetic variations that may predispose an individual to autism, providing crucial information for early intervention, management, and support strategies tailored to the individual's needs.
The cost of the CHD8 Gene Autism Susceptibility Type 18 Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem significant, the insights gained from this test can be invaluable for families and individuals seeking to understand their genetic predisposition to autism, facilitating early and targeted approaches to care and support.
