The CFL2 gene nemaline myopathy type 7 genetic test is a specialized diagnostic tool designed to identify mutations in the CFL2 gene, which are associated with nemaline myopathy type 7. This condition is a rare genetic disorder characterized by muscle weakness, hypotonia, and the presence of nemaline bodies in muscle fibers. Early detection through genetic testing can be crucial for management and treatment planning.
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 4400 AED, an investment in obtaining crucial genetic information that can guide patient care and inform family planning decisions. This test is essential for families with a history of nemaline myopathy or individuals showing symptoms related to the disorder, providing them with a clear genetic understanding of their condition.
The MT-TV gene is associated with a mitochondrial condition that can lead to Leigh Syndrome, a severe neurological disorder that typically manifests in infancy. This syndrome is characterized by progressive loss of mental and movement abilities, which can lead to early death, often within the first few years of life. The condition is linked to defects in mitochondrial DNA, where the MT-TV gene plays a crucial role in protein synthesis within the mitochondria, essential for energy production in cells.
To identify the potential risk or presence of Leigh Syndrome associated with mutations in the MT-TV gene, DNA Labs UAE offers a specialized genetic test. This test is crucial for early detection, allowing for timely intervention and management of the condition to improve the quality of life for affected individuals. The genetic test involves analyzing the patient's DNA to identify mutations in the MT-TV gene that are known to cause Leigh Syndrome.
The cost of the MT-TV gene-related genetic test for neonatal death due to Leigh Syndrome at DNA Labs UAE is 4400 AED. This price includes the collection of a DNA sample, usually through a blood draw or cheek swab, and comprehensive analysis by the laboratory. Results from this test can provide essential information for families with a history of Leigh Syndrome or those who have had children with unexplained neonatal death, guiding future family planning and potential treatments.
Given the complexity and potential impact of the results, genetic counseling is often recommended alongside the test. This counseling provides individuals and families with information about the implications of the test results, the nature of Leigh Syndrome, and support for dealing with the outcomes of the genetic testing.
The FOLR1 gene plays a crucial role in the transportation of folate across the blood-brain barrier, a vital process for normal neurological development and function. Mutations in the FOLR1 gene can lead to cerebral folate transport deficiency, a condition characterized by a spectrum of neurological symptoms ranging from developmental delays to severe neurodegeneration. Early detection and diagnosis through genetic testing can be pivotal in managing symptoms and improving the quality of life for affected individuals.
DNA Labs UAE offers a comprehensive genetic test for detecting mutations in the FOLR1 gene, which is essential for diagnosing cerebral folate transport deficiency. The test, priced at 4400 AED, involves analyzing the patient's DNA to identify any alterations in the FOLR1 gene that might impede the normal transport of folate into the brain. This precise genetic testing provides invaluable insights for clinicians to devise appropriate treatment strategies, potentially involving folinic acid supplementation to mitigate the effects of reduced folate transport.
By availing of this test at DNA Labs UAE, individuals suspected of having cerebral folate transport deficiency can receive a definitive diagnosis, enabling timely and targeted interventions. This not only aids in alleviating symptoms but also significantly contributes to preventing the progression of neurodegeneration associated with this condition.
The WDR45 Gene Neurodegeneration with Brain Iron Accumulation Type 5 (NBIA5) Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, aimed at identifying mutations in the WDR45 gene. These mutations are associated with NBIA type 5, a rare genetic disorder characterized by iron accumulation in the brain, leading to progressive neurodegeneration. Symptoms often include movement disorders, psychiatric issues, and cognitive decline, with onset and severity varying among individuals.
This test, priced at 4400 AED, involves analyzing the patient's DNA to detect abnormalities in the WDR45 gene, which is crucial for the diagnosis and understanding of the disease's progression and potential treatment options. By pinpointing the specific mutation, healthcare providers can offer more personalized care plans, potentially improving patient outcomes. DNA Labs UAE employs state-of-the-art genetic testing technologies to ensure accurate and reliable results, making it a valuable resource for patients and families affected by this challenging condition.
The ACTA1 gene myopathy with fiber-type disproportion genetic test is a specialized diagnostic tool aimed at identifying mutations in the ACTA1 gene, which are known to cause a form of congenital myopathy characterized by muscle weakness and fiber-type disproportion. This condition, often diagnosed in infancy or early childhood, manifests through a range of symptoms including hypotonia, delayed motor milestones, and respiratory issues, among others. The ACTA1 gene plays a crucial role in encoding the skeletal muscle actin, a key component of the muscle contractile system. Mutations in this gene can disrupt muscle function, leading to the clinical features observed in affected individuals.
The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any genetic alterations in the ACTA1 gene. It is a critical step for confirming the diagnosis, understanding the disease progression, and guiding treatment options. Furthermore, it can provide essential information for family planning and genetic counseling for families affected by this condition.
Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test ensures high accuracy and reliability. The cost of the ACTA1 gene myopathy with fiber-type disproportion genetic test is set at 4400 AED, reflecting the sophisticated technology and expertise required to perform this advanced genetic analysis. Opting for this test at DNA Labs UAE offers patients and their families the assurance of comprehensive support, from initial consultation through to result interpretation and beyond, in managing this complex genetic condition.
The SELENON Gene Myopathy with Fiber-Type Disproportion Genetic Test is a specialized diagnostic examination available at DNA Labs UAE, designed to detect mutations in the SELENON gene, which are associated with a rare form of myopathy known as SELENON-related myopathy or SEPN1-related myopathy. This condition is characterized by muscle weakness and fiber-type disproportion, a pathological finding where there is a significant difference in size between type 1 and type 2 muscle fibers without any other significant abnormalities. The test is crucial for the accurate diagnosis of the condition, enabling healthcare providers to tailor management and intervention strategies effectively for affected individuals.
Priced at 3200 AED, the test involves analyzing the patient's DNA to identify any genetic alterations in the SELENON gene that might lead to the development of the disease. Conducted in the state-of-the-art facilities of DNA Labs UAE, this genetic test is a powerful tool for families and individuals seeking answers to unexplained muscle weakness and related symptoms, potentially guiding them towards appropriate treatment options and genetic counseling.
The "MEGF10 Gene Myopathy Areflexia Respiratory Distress and Dysphagia Early-Onset Genetic Test" is a specialized diagnostic procedure available at DNA Labs UAE, designed to detect mutations in the MEGF10 gene, which are associated with a rare genetic disorder. This condition is characterized by a range of symptoms including muscle weakness (myopathy), absence of reflexes (areflexia), difficulty breathing (respiratory distress), and problems with swallowing (dysphagia) that manifest early in life. The test, priced at 4400 AED, involves analyzing the patient's DNA to identify any genetic alterations in the MEGF10 gene that could lead to the disorder. By providing a precise genetic diagnosis, this test enables targeted management and treatment strategies, offering hope and support to affected individuals and their families. DNA Labs UAE employs state-of-the-art technology and expertise to ensure accurate and reliable test results.
The COL6A6 gene myopathy refers to a group of disorders caused by mutations in the COL6A6 gene. This gene is crucial for encoding a component of type VI collagen, which plays a significant role in the structure and function of muscle tissue and other connective tissues. Mutations in the COL6A6 gene can lead to muscle weakness, joint abnormalities, and a variety of other symptoms, depending on the severity and type of mutation.
To diagnose conditions related to the COL6A6 gene, genetic testing is available. One such test is offered by DNA Labs UAE, a leading facility in genetic diagnostics. The COL6A6 related genetic test is a comprehensive analysis designed to detect mutations in the COL6A6 gene that could lead to myopathy and related disorders. This test is critical for confirming a diagnosis, understanding the risk of passing the mutation to offspring, and guiding treatment options.
The cost of the COL6A6 related genetic test at DNA Labs UAE is 4400 AED. This investment covers the collection of a DNA sample, usually through a blood draw or a cheek swab, and its subsequent analysis in the laboratory. The test results can provide invaluable information for affected individuals and their families, including the potential for personalized treatment plans and management strategies to improve quality of life.
The CRYAB gene myopathy, also known as desmin-related myopathy, is a rare genetic disorder characterized by muscle weakness and abnormalities. This condition is associated with mutations in the CRYAB gene, which plays a crucial role in the stability and function of muscle cells. The CRYAB gene encodes for alpha-crystallin B, a small heat shock protein that is significant in preventing the aggregation of misfolded proteins, thus ensuring the proper functioning of muscle fibers.
To diagnose this condition, a genetic test can be performed to identify mutations in the CRYAB gene. DNA Labs UAE offers this specialized test, providing a crucial tool for the accurate diagnosis of CRYAB gene myopathy. The test involves analyzing the patient's DNA to look for specific mutations in the CRYAB gene that are known to cause the disorder. This genetic test is pivotal for families with a history of the condition, as it can help in early diagnosis, management, and understanding the risk of passing the mutation to future generations.
The cost of the genetic test for CRYAB gene myopathy at DNA Labs UAE is 4400 AED. This investment is crucial for affected individuals and their families, as it provides essential information for the management of the condition, potential treatment options, and genetic counseling. Early diagnosis through this genetic test can significantly impact the quality of life of individuals with CRYAB gene myopathy by enabling timely interventions and personalized care plans.
The MYH7 gene myopathy distal type 1 genetic test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the MYH7 gene that are associated with distal myopathy type 1, a rare inherited muscle disorder. This condition is characterized by weakness and atrophy of the distal muscles, primarily affecting the lower legs and hands, and can lead to significant impairment in mobility and hand function.
Distal myopathy type 1 is caused by mutations in the MYH7 gene, which encodes the beta-myosin heavy chain protein, a crucial component of the contractile system in skeletal and cardiac muscles. The genetic test involves analyzing the patient's DNA, extracted from a blood sample, to search for specific mutations in the MYH7 gene that are known to cause the disorder.
The test is priced at 4400 AED and is conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring high accuracy and reliability of the results. The test is critical for individuals with a family history of distal myopathy type 1 or those exhibiting symptoms, as a positive result can confirm the diagnosis and facilitate early intervention and management strategies. Additionally, the test can provide valuable information for family planning and genetic counseling for affected individuals and their families.
