The ACTA1 gene is crucial for encoding actin, a protein that plays a vital role in muscle contraction and structure. Mutations in the ACTA1 gene are associated with Nemaline Myopathy Type 3, a genetic disorder characterized by muscle weakness, hypotonia, and the presence of rod-like structures in muscle fibers, visible under a microscope. This condition is part of a spectrum of neuromuscular disorders that can vary in severity and onset, often presenting challenges in movement and respiratory function.
To diagnose this specific form of myopathy, genetic testing is available at DNA Labs UAE, focusing on identifying mutations within the ACTA1 gene. The test is an essential tool for confirming the diagnosis, understanding the disease's progression, and assisting in managing and planning treatment options. It involves analyzing the patient's DNA to pinpoint mutations in the ACTA1 gene that are known to cause Nemaline Myopathy Type 3.
The cost of the ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the detailed analysis required to accurately identify the genetic alterations responsible for the condition. Given the complexity of genetic testing and the expertise required, the cost reflects the resources and technology utilized to provide a definitive diagnosis. This test is a critical step for affected individuals and their families to gain a clear understanding of the condition and to navigate the challenges associated with Nemaline Myopathy Type 3.
The TPM2 Gene Nemaline Myopathy Type 4 Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to identify mutations in the TPM2 gene, which are associated with Nemaline Myopathy Type 4. Nemaline Myopathy is a genetic disorder characterized by muscle weakness, hypotonia, and the presence of rod-like structures called nemaline bodies in muscle fibers, visible under a microscope. The condition is part of a broader group of neuromuscular disorders that can vary in severity and onset, with some forms present from birth.
The TPM2 gene plays a crucial role in muscle function and structure, encoding a protein essential for muscle fiber stability and contraction. Mutations in this gene can disrupt normal muscle function, leading to the symptoms observed in Nemaline Myopathy Type 4.
The genetic test at DNA Labs UAE involves analyzing the patient's DNA, extracted from a blood sample, to detect mutations in the TPM2 gene. This test is vital for confirming the diagnosis of Nemaline Myopathy Type 4, allowing for a better understanding of the condition's prognosis, and informing treatment and management decisions. It is also useful for genetic counseling, helping families understand the risk of the disorder being passed on to future generations.
The cost of the TPM2 Gene Nemaline Myopathy Type 4 Genetic Test at DNA Labs UAE is 3200 AED. The test is conducted in a state-of-the-art laboratory by experienced geneticists and technicians, ensuring accurate and reliable results.
The TNNT1 Gene Nemaline Myopathy Type 5 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the TNNT1 gene, which are responsible for Nemaline Myopathy Type 5. This condition is a rare genetic disorder characterized by muscle weakness, hypotonia, and the presence of rod-like structures called nemaline bodies in muscle fibers, discernible under a microscope. The TNNT1 gene plays a crucial role in the development and function of skeletal muscles, and mutations in this gene can lead to the symptoms associated with Nemaline Myopathy Type 5.
This genetic test involves analyzing the patient's DNA to detect mutations in the TNNT1 gene, offering crucial information for the diagnosis, management, and understanding of the genetic risk for family members. 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, reliable, and comprehensive diagnostic services. By opting for this test, individuals suspected of having Nemaline Myopathy Type 5 or their family members can gain valuable insights into their condition, facilitating informed decisions regarding treatment and genetic counseling.
The KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the KBTBD13 gene, which are responsible for causing Nemaline Myopathy Type 6. This rare genetic disorder is characterized by muscle weakness, hypotonia, and the presence of rod-like structures in muscle cells, known as nemaline bodies. Early diagnosis through this genetic test is crucial for managing symptoms and improving the quality of life for affected individuals. The test is priced at 4400 AED and is conducted in the advanced facilities of DNA Labs UAE, ensuring accurate and reliable results. By analyzing a small sample of the patient's DNA, this test provides valuable information for genetic counseling and guides decision-making regarding treatment options.
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.
