The ACADSB gene 2-Methylbutyrylglycinuria genetic test is a specialized diagnostic procedure aimed at identifying mutations in the ACADSB gene, which are linked to the rare metabolic disorder known as 2-Methylbutyrylglycinuria. This condition affects the body's ability to break down certain amino acids, leading to a buildup of specific substances that can be harmful. Symptoms of the disorder can vary and may include developmental delay, seizures, and metabolic crises, making early detection and management crucial for affected individuals.
The test involves analyzing the patient's DNA to detect mutations in the ACADSB gene, which provides instructions for making an enzyme necessary for the breakdown of the amino acid isoleucine. A mutation in this gene can disrupt this process, leading to the accumulation of toxic substances in the body.
Conducted at DNA Labs UAE, a leading facility in genetic testing, the test is priced at 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experts in the field of genetic diagnostics, ensuring accurate and reliable test results. This genetic test is crucial for families with a history of 2-Methylbutyrylglycinuria, as it can provide essential information for the management of the condition, including dietary restrictions and monitoring for potential complications.
The HSD3B2 gene plays a crucial role in the biosynthesis of all classes of hormonal steroids, including glucocorticoids, mineralocorticoids, and sex steroids. Mutations in the HSD3B2 gene can lead to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2, a rare endocrine disorder that affects steroid hormone production. This condition can result in ambiguous genitalia in genetically male infants, adrenal insufficiency, and potentially life-threatening salt loss in early infancy.
To diagnose this condition, a genetic test targeting the HSD3B2 gene can be conducted. This test involves analyzing the DNA to identify mutations in the HSD3B2 gene that are known to cause the deficiency. It is a crucial step in confirming the diagnosis, which can then guide treatment and management strategies for affected individuals.
In the United Arab Emirates, DNA Labs UAE offers this specialized genetic test. The cost of the test is 3200 AED. Conducting the test at DNA Labs UAE ensures that patients receive accurate and reliable results, thanks to the lab's commitment to using state-of-the-art genetic testing technologies and its team of experienced professionals. This test is not only pivotal for diagnosis but also for family planning and genetic counseling for families affected by 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2.
The TTN Gene Tibial Muscular Dystrophy Tardive Genetic Test is a specialized diagnostic examination aimed at detecting mutations in the TTN gene, which are known to cause Tibial Muscular Dystrophy (TMD), a type of late-onset muscular dystrophy. This condition primarily affects the muscles at the front of the lower leg, leading to weakness and other related symptoms. The test is essential for individuals showing symptoms of TMD or those with a family history of the disease, as it helps in confirming the diagnosis and facilitating early intervention and management strategies.
Conducted at DNA Labs UAE, a leading facility in genetic testing, this test offers a comprehensive analysis of the TTN gene to identify any genetic alterations that might be responsible for the condition. The cost of the test is set at 4400 AED, reflecting the intricate technology and expertise required to accurately identify mutations in the gene.
By opting for this genetic test, patients and their families can gain valuable insights into the genetic underpinnings of Tibial Muscular Dystrophy, allowing for better-informed decisions regarding treatment and management of the condition. Moreover, the results from this test can also be crucial for genetic counseling, especially for individuals planning to start a family and wanting to understand the risk of passing the condition to their offspring.
The SLITRK1 Gene Tourette Syndrome Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the SLITRK1 gene, which have been associated with the development of Tourette Syndrome. Tourette Syndrome is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The presence of mutations in the SLITRK1 gene can suggest a genetic predisposition to this condition, providing crucial information for individuals and families seeking answers about Tourette Syndrome's underlying causes and risks.
This genetic test involves collecting a DNA sample, typically through a blood draw or a cheek swab, and analyzing the SLITRK1 gene for specific genetic changes. The process is conducted in the state-of-the-art facilities of DNA Labs UAE, ensuring high accuracy and reliability of the results. The test is priced at 4400 AED, reflecting the sophisticated technology and expert analysis involved in identifying the genetic markers associated with Tourette Syndrome.
By opting for the SLITRK1 Gene Tourette Syndrome Genetic Test, individuals can gain valuable insights into their genetic makeup, enabling informed decisions about their health and well-being. It also provides a foundation for personalized treatment plans and interventions, potentially improving the quality of life for those affected by Tourette Syndrome.
The TSC2 Gene Tuberous Sclerosis Type 2 Genetic Test is a specialized diagnostic tool aimed at identifying mutations in the TSC2 gene, which are linked to Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by the growth of noncancerous (benign) tumors in many parts of the body. These mutations can lead to a range of symptoms, including skin abnormalities, seizures, developmental delays, and problems with the heart, kidneys, eyes, and lungs. The test is crucial for early detection, allowing for timely intervention and management of the condition.
Conducted at DNA Labs UAE, a leading facility in genetic testing, the test offers a comprehensive analysis of the TSC2 gene to identify specific genetic alterations. This test is particularly important for families with a history of Tuberous Sclerosis Complex or individuals showing symptoms of the disorder. The cost of the test is set at 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in the TSC2 gene. By opting for this test at DNA Labs UAE, patients and their families can gain valuable insights into their genetic makeup, enabling informed decisions about their health and management of Tuberous Sclerosis Complex.
The COL6A1 gene Ullrich Congenital Muscular Dystrophy genetic test is a specialized diagnostic tool designed to identify mutations in the COL6A1 gene, which are associated with Ullrich Congenital Muscular Dystrophy (UCMD). UCMD is a severe form of muscular dystrophy characterized by muscle weakness, joint stiffness, and in some cases, skin abnormalities. This condition is inherited in an autosomal recessive manner, meaning that two copies of the mutated gene, one from each parent, are required for a child to be affected.
The test is available at DNA Labs UAE, a leading facility in genetic testing and analysis. The cost of the test is 4400 AED, which covers the process of collecting a DNA sample, usually through a blood draw or cheek swab, and the subsequent laboratory analysis to detect the presence of mutations in the COL6A1 gene. Results from this test can provide crucial information for families affected by UCMD, including confirming a diagnosis, understanding the risk of passing the condition to future generations, and guiding treatment and management decisions. DNA Labs UAE employs state-of-the-art technology and adheres to stringent quality standards to ensure accurate and reliable test results.
The COL6A2 gene is crucial for the production of collagen VI, a vital component of the extracellular matrix in muscle tissues. Mutations in this gene are associated with Ullrich Congenital Muscular Dystrophy (UCMD), a severe genetic disorder characterized by muscle weakness, joint hypermobility, and skin abnormalities. The 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.
To diagnose UCMD and identify mutations in the COL6A2 gene, genetic testing is available. DNA Labs UAE offers a specialized test for this purpose. The test involves analyzing the patient's DNA, obtained through a blood sample, to look for mutations in the COL6A2 gene that are known to cause UCMD. This test is crucial for accurate diagnosis, guiding treatment options, and providing information for family planning.
The cost of the COL6A2 gene test for Ullrich Congenital Muscular Dystrophy at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect the specific genetic mutations associated with the disorder, providing essential information for patients and their families.
The COL6A3 gene is associated with Ullrich Congenital Muscular Dystrophy Type 1, a rare genetic disorder characterized by muscle weakness, joint hypermobility, and skin abnormalities. This condition is part of a group of disorders known as collagenopathies, which are caused by mutations in the genes responsible for the production of collagen VI. The COL6A3 gene, in particular, encodes one of the three alpha chains that form collagen VI, a critical component of the extracellular matrix surrounding muscle cells and other tissues.
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the COL6A3 gene that are linked to Ullrich Congenital Muscular Dystrophy Type 1. This test is a crucial tool for confirming a diagnosis, which can otherwise be challenging due to the variability of symptoms and their overlap with other neuromuscular disorders. Early and accurate diagnosis through genetic testing can guide appropriate management strategies, inform prognosis, and aid in family planning by assessing the risk of passing the condition to offspring.
The cost of the COL6A3 gene test at DNA Labs UAE is 4400 AED. This investment includes the extraction of DNA from a blood sample, the sequencing of the COL6A3 gene to identify any mutations, and a comprehensive report that interprets the results. Given the specialized nature of this test and its importance in the accurate diagnosis of Ullrich Congenital Muscular Dystrophy Type 1, the cost reflects the technical expertise and resources required to conduct the analysis and provide reliable results.
The COL12A1 gene plays a crucial role in the development and maintenance of muscle tissue. Mutations in this gene are linked to Ullrich Congenital Muscular Dystrophy Type 2, a severe condition characterized by muscle weakness, joint hypermobility, and skin abnormalities. This genetic disorder is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.
DNA Labs UAE offers a specialized genetic test to identify mutations in the COL12A1 gene, aiding in the diagnosis of Ullrich Congenital Muscular Dystrophy Type 2. This test is vital for affected individuals and their families, as it can provide crucial information for managing the condition, understanding the risk of recurrence in future pregnancies, and exploring potential treatment options.
The test is priced at 4400 AED and involves collecting a DNA sample, typically through a blood draw or a cheek swab. The sample is then analyzed in the laboratory to detect any mutations in the COL12A1 gene. Results from this test can help guide clinical management and genetic counseling for families affected by this condition.
It's important for individuals considering this test to consult with a healthcare provider or a genetic counselor to understand the implications of the results and to ensure comprehensive support throughout the testing process.
The CSTB gene Unverricht-Lundborg Disease genetic test is a specialized diagnostic tool used to detect mutations in the CSTB gene, which are responsible for causing Unverricht-Lundborg Disease (ULD) - a rare type of inherited epilepsy. This autosomal recessive genetic disorder is characterized by myoclonic seizures, tonic-clonic seizures, and in some cases, cognitive decline. Early detection through genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals.
Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample from the patient, usually through a blood draw or a cheek swab. The laboratory then analyzes the sample to identify any mutations in the CSTB gene that are indicative of Unverricht-Lundborg Disease. The accuracy of this test makes it a valuable resource for families with a history of the condition, offering them an opportunity for early intervention and genetic counseling.
The cost of the CSTB gene Unverricht-Lundborg Disease genetic test at DNA Labs UAE is 4400 AED. Given the specialized nature of this test and the advanced technology used in the analysis, the price reflects the comprehensive approach taken to ensure accurate and reliable results. For patients and families facing the challenges of Unverricht-Lundborg Disease, this test represents a crucial step towards effective management and treatment of the condition.
