The "CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test" is a specialized diagnostic assessment offered at DNA Labs UAE. This test is designed to identify mutations in the CTDP1 gene, which are linked to a rare genetic condition characterized by the development of cataracts, distinctive facial dysmorphism, and neuropathy. Individuals with mutations in the CTDP1 gene may present a range of symptoms, including vision impairment due to cataracts, unique facial features that differ from family traits, and various degrees of nerve damage leading to sensory or motor impairments.
The test is conducted through a comprehensive analysis of the patient's DNA, aiming to provide crucial information for accurate diagnosis, management, and understanding of the condition's inheritance patterns. It is particularly recommended for individuals showing symptoms of the condition or those with a family history of similar symptoms.
The cost of the CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the genetic testing procedure, analysis, and a detailed report of the findings. Given the complexity and rarity of the condition, this test is a valuable tool for affected individuals and their families to make informed decisions about their health and future.
The RYR1 Gene Central Core Disease Genetic Test is a specialized diagnostic procedure designed to identify mutations in the RYR1 gene, which are associated with Central Core Disease (CCD). CCD is a rare genetic condition characterized by muscle weakness, skeletal abnormalities, and an increased risk of malignant hyperthermia, a severe reaction to certain anesthesia drugs. This test involves analyzing the patient's DNA to detect any abnormalities in the RYR1 gene that could indicate the presence of CCD.
Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test ensures high accuracy and reliability in results, thanks to their state-of-the-art technology and expert team. The cost of the test is set at 4400 AED, reflecting the comprehensive analysis and detailed reporting provided. By identifying the genetic basis of CCD, this test enables targeted management strategies, personalized care, and informed family planning decisions for affected individuals and their families.
The PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test is a specialized diagnostic tool available at DNA Labs UAE. Priced at 4400 AED, this test is designed to identify mutations in the PHOX2B gene, which are linked to the development of Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare genetic condition that affects the autonomic control of breathing, leading to inadequate ventilation, especially during sleep or in response to hypercapnia or hypoxia. Furthermore, mutations in the PHOX2B gene can also be associated with Hirschsprung Disease, a disorder affecting the colon's nerve cells and leading to severe constipation or intestinal blockage.
This genetic test is crucial for early diagnosis and management of affected individuals, allowing for tailored treatment plans that can significantly improve quality of life. Conducted at DNA Labs UAE, the test involves collecting a DNA sample, typically through a blood draw or a cheek swab, and analyzing it for specific genetic variations in the PHOX2B gene. The comprehensive nature of this test, combined with the expertise at DNA Labs UAE, makes it a vital resource for families and individuals dealing with or at risk of these complex conditions.
The ASCL1 gene plays a critical role in the development and function of the autonomic nervous system, which controls involuntary actions such as breathing. Mutations in the ASCL1 gene can lead to Congenital Central Hypoventilation Syndrome (CCHS), a rare genetic disorder characterized by the failure to automatically control breathing. This means affected individuals do not adequately ventilate, especially during sleep, leading to a risk of hypoventilation (underbreathing), which can result in life-threatening complications.
To diagnose this condition, genetic testing of the ASCL1 gene can be conducted. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the ASCL1 gene that are associated with Congenital Central Hypoventilation Syndrome. This test is crucial for the accurate diagnosis and management of the condition, allowing for appropriate treatment and monitoring strategies to be implemented, enhancing the quality of life for affected individuals.
The cost of the ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the genetic analysis and professional interpretation of the results, ensuring that patients and their families receive accurate and actionable information. This test is an essential tool in the management of CCHS, providing a clear genetic diagnosis that can guide treatment decisions and support family planning considerations.
The DNM2 Gene Centronuclear Myopathy Type 1 Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the DNM2 gene, which are responsible for Centronuclear Myopathy Type 1. This condition is a rare genetic disorder characterized by muscle weakness and abnormalities in the placement of nuclei in muscle cells. The test is crucial for early diagnosis, enabling timely intervention and management of the condition. Priced at 4400 AED, the test involves analyzing the patient's DNA to identify specific genetic alterations in the DNM2 gene, providing insights into the risk and guiding treatment options for affected individuals and their families.
The MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test is a specialized diagnostic tool designed to detect mutations in the MTMR14 gene, which are linked to the development of Centronuclear Myopathy Type 1 (CNM1). CNM1 is a rare genetic disorder characterized by muscle weakness, decreased muscle tone, and potential respiratory complications, with symptoms often appearing from birth or early childhood. The test is aimed at individuals who exhibit symptoms of CNM1 or have a family history of the condition, providing crucial information for accurate diagnosis and management.
Performed at DNA Labs UAE, a leading facility in genetic testing, the test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed to identify any genetic alterations in the MTMR14 gene. The results from this test can help guide treatment decisions, inform family planning, and provide a prognosis for affected individuals.
The cost of the MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test at DNA Labs UAE is 4400 AED. This cost reflects the specialized nature of the test, the expertise required to accurately interpret the results, and the comprehensive support provided to patients and families throughout the testing process.
The BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test is a specialized diagnostic procedure designed to identify mutations in the BIN1 gene, which are linked to the development of Centronuclear Myopathy Type 2, a rare genetic disorder characterized by muscle weakness and structural abnormalities in muscle cells. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
Performed at DNA Labs UAE, this genetic test involves analyzing the patient's DNA, extracted from a blood sample or cheek swab, to look for specific mutations in the BIN1 gene that are known to cause the disease. The test is crucial for confirming the diagnosis, understanding the disease's progression, and guiding treatment decisions. It can also provide valuable information for family planning and genetic counseling for families affected by Centronuclear Myopathy Type 2.
The cost of the BIN1 Gene Centronuclear Myopathy Type 2 Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity of the test and the expertise required to interpret the results accurately, this price reflects the specialized nature of the genetic testing process. Patients considering this test are advised to consult with a genetic counselor or a healthcare provider specializing in genetic disorders to discuss the implications of the test results and the next steps in the management of the condition.
The MYF6 gene plays a crucial role in muscle development and function. Mutations in the MYF6 gene can lead to a rare genetic disorder known as Centronuclear Myopathy Type 3 (CNM3), characterized by muscle weakness and structural abnormalities in muscle cells. Identifying mutations in the MYF6 gene is essential for diagnosing CNM3, enabling early intervention and management of the condition.
DNA Labs UAE offers a specialized genetic test aimed at detecting mutations in the MYF6 gene associated with Centronuclear Myopathy Type 3. This test is a vital tool for individuals with a family history of CNM3 or those exhibiting symptoms consistent with the disorder. By analyzing the genetic material with precision, the test can confirm or rule out the presence of the specific mutations linked to this form of myopathy.
The cost of the MYF6 Gene Centronuclear Myopathy Type 3 Genetic Test at DNA Labs UAE is 4400 AED. The testing process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory using advanced genetic sequencing techniques. The results provide valuable information for affected individuals and their families, guiding treatment decisions and genetic counseling.
It's important for potential test-takers to consult with a healthcare professional or genetic counselor before and after the test to understand the implications of the results and to receive appropriate support and guidance.
The CCDC78 gene centronuclear myopathy type 4 genetic test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the CCDC78 gene, which are linked to the development of centronuclear myopathy type 4 (CNM4). This condition is a rare genetic disorder characterized by muscle weakness and abnormalities in the placement of nuclei within muscle cells. The test plays a crucial role in the early detection and management of the disease, offering insights that can guide treatment options and genetic counseling.
The process 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 alterations in the CCDC78 gene. This test is particularly valuable for individuals with a family history of centronuclear myopathy or those exhibiting symptoms related to the condition, enabling them to make informed decisions regarding their health and family planning.
The cost of the CCDC78 gene centronuclear myopathy type 4 genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to accurately identify the genetic mutation associated with the condition, offering peace of mind and a clear path forward for affected individuals and their families.
The SPEG Gene Centronuclear Myopathy Type 5 Genetic Test is a highly specialized diagnostic tool designed to identify mutations in the SPEG gene, which are linked to Centronuclear Myopathy Type 5 (CNM5). This condition is a rare genetic disorder characterized by muscle weakness and abnormalities in the placement of nuclei within muscle cells, leading to significant motor function impairment. Early detection through this genetic test is crucial for managing symptoms and planning treatment strategies.
The test is conducted at DNA Labs UAE, a leading facility in genetic diagnostics, ensuring high accuracy and reliability of results. The cost of the test is set at 4400 AED, reflecting the comprehensive analysis and detailed reporting provided. Through this test, individuals at risk or showing symptoms of CNM5 can gain valuable insights into their genetic makeup, allowing for informed medical and lifestyle decisions.
