The "OPHN1 Gene Mental Retardation X-Linked With Cerebellar Hypoplasia and Distinctive Facial Appearance Genetic Test" is a specialized diagnostic assessment available at DNA Labs UAE, designed to identify mutations in the OPHN1 gene. These mutations are associated with a rare genetic disorder that primarily affects males, leading to intellectual disability, underdevelopment of the cerebellum (a part of the brain that coordinates movement), and a unique facial appearance. The condition is X-linked, meaning it is related to the X chromosome, and thus predominantly impacts males while females can be carriers with no or mild symptoms.
This comprehensive genetic test, priced at 4400 AED, is crucial for early diagnosis and management of the condition. It involves analyzing the patient's DNA to detect abnormalities in the OPHN1 gene, which can help in understanding the severity of the disorder, planning appropriate therapies, and offering genetic counseling to families. DNA Labs UAE employs advanced genetic testing techniques to ensure accurate and reliable results, aiding in the better management of the symptoms associated with this condition and enhancing the quality of life for affected individuals and their families.
The "SOX3 Gene Mental Retardation X-Linked With Isolated Growth Hormone Deficiency Genetic Test" is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the SOX3 gene. These mutations are associated with a rare genetic disorder characterized by intellectual disability, often linked to the X chromosome, and an isolated deficiency of growth hormone, leading to growth failure and delayed puberty in affected individuals.
This test is crucial for individuals showing symptoms of the disorder or for families with a history of the condition, as it provides essential genetic information. The procedure involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory for specific mutations in the SOX3 gene.
The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized expertise required to interpret the results. By identifying the genetic underpinnings of the condition, the test enables tailored treatment approaches, including hormone replacement therapy and educational support, significantly improving the quality of life for affected individuals. DNA Labs UAE, with its state-of-the-art facilities and expert team, ensures accurate and reliable testing services for this complex genetic condition.
The MT-TK gene is associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MERRF Syndrome), a rare genetic disorder that affects the body's cells' ability to produce energy. The MT-TK gene, located in mitochondrial DNA, plays a critical role in the translation process of mitochondrial proteins essential for cellular energy production. Mutations in the MT-TK gene can lead to MERRF Syndrome, characterized by muscle weakness, epilepsy, hearing loss, and other neurological and muscular symptoms.
To diagnose and confirm MERRF Syndrome, genetic testing targeting the MT-TK gene is crucial. DNA Labs UAE offers a specialized genetic test for identifying mutations in the MT-TK gene related to MERRF Syndrome. The test involves collecting a DNA sample, usually through a blood draw, and analyzing the genetic material for specific mutations associated with the syndrome.
The cost of the MT-TK related genetic test at DNA Labs UAE is 4400 AED. This test is instrumental for individuals with a family history of MERRF Syndrome or those exhibiting symptoms associated with the disorder. Early and accurate diagnosis through genetic testing can aid in the management of symptoms and guide treatment options, significantly improving the quality of life for affected individuals.
The MT-TP gene is associated with a rare condition known as Myoclonic Epilepsy with Ragged Red Fibers (MERRF) Syndrome. This genetic disorder is characterized by uncontrolled muscle jerks (myoclonus), muscle weakness, and fibers in muscle tissue that appear ragged and red when viewed under a microscope. It is a mitochondrial disorder, meaning it affects the mitochondria, the parts of the cell responsible for generating energy.
To diagnose or confirm MERRF Syndrome, a genetic test focusing on the MT-TP gene can be conducted. This test examines the DNA for mutations in the MT-TP gene that are known to cause the condition. It is a crucial step for individuals who exhibit symptoms of MERRF Syndrome or have a family history of the disorder, as it can provide a definitive diagnosis.
In the United Arab Emirates, this specific genetic test for MERRF Syndrome related to the MT-TP gene is available at DNA Labs UAE. The cost for undergoing this test is 4400 AED. This comprehensive test can help in guiding treatment decisions, understanding the risk of passing the condition to future generations, and providing a clear diagnosis that can be crucial for managing the syndrome effectively.
The MT-TS1 gene is associated with a rare genetic condition known as MERRF/MELAS overlap syndrome. This syndrome combines features of two mitochondrial disorders: Myoclonic Epilepsy with Ragged Red Fibers (MERRF) and Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). Both disorders affect multiple systems in the body, particularly the muscles and the nervous system, leading to a wide range of symptoms including muscle weakness, seizures, hearing loss, and stroke-like episodes.
The MT-TS1 gene plays a crucial role in mitochondrial function, specifically in the transfer RNA (tRNA) that is essential for the proper production of proteins within the mitochondria. Mutations in this gene can disrupt mitochondrial protein synthesis, leading to impaired energy production in cells, which is a hallmark of mitochondrial disorders.
To diagnose and confirm the presence of MERRF/MELAS overlap syndrome, a genetic test targeting the MT-TS1 gene can be conducted. This test involves analyzing the DNA to identify mutations in the MT-TS1 gene that are known to cause the syndrome.
In the United Arab Emirates, this specific genetic test is available at DNA Labs UAE. The test cost is 4400 AED. By opting for this test, individuals who exhibit symptoms of MERRF/MELAS overlap syndrome or have a family history of mitochondrial disorders can gain valuable insights into their genetic makeup. This not only aids in the diagnosis but also helps in managing the condition more effectively through personalized treatment plans and preventive measures.
The MT-TS2 gene MERRF/MELAS overlap syndrome is a rare genetic disorder that combines features of two mitochondrial diseases: Myoclonic Epilepsy with Ragged Red Fibers (MERRF) and Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). This condition is associated with mutations in the mitochondrial gene MT-TS2, which is involved in the mitochondrial protein synthesis necessary for cellular energy production. Symptoms can vary widely among affected individuals and may include muscle weakness, seizures, hearing loss, and episodes resembling strokes.
To diagnose this complex syndrome, genetic testing is crucial. DNA Labs UAE offers a specific test targeting the MT-TS2 gene to identify mutations linked to the MERRF/MELAS overlap syndrome. This test is pivotal for confirming the diagnosis, understanding the disease's progression, and guiding treatment strategies.
The cost of the MT-TS2 related genetic test at DNA Labs UAE is 4400 AED. This test is conducted with high precision and accuracy, providing essential information for affected individuals and their families. By pinpointing the exact genetic mutation, healthcare providers can offer more personalized care plans and potentially connect patients with targeted therapies or clinical trials.
Metachromatic Leukodystrophy (MLD) is a rare, inherited lysosomal storage disorder characterized by the accumulation of sulfatides in the brain and other areas of the body, leading to progressive neurological damage. One form of this condition is specifically caused by a deficiency in Saposin B, a protein essential for the breakdown of certain lipids in the body. This deficiency is linked to mutations in the PSAP gene, which encodes the precursor protein that gives rise to Saposin B among other saposins.
To diagnose this specific form of MLD, genetic testing of the PSAP gene can be conducted. This involves analyzing the DNA to identify mutations that lead to Saposin B deficiency. DNA Labs UAE offers a comprehensive genetic test for this purpose, providing a crucial tool for the accurate diagnosis of patients suspected to have MLD due to Saposin B deficiency.
The test is priced at 4400 AED and is performed in their state-of-the-art facilities. It is a significant step towards confirming the diagnosis, which can then guide treatment options and genetic counseling. Early and precise diagnosis through such genetic testing is vital for managing symptoms and improving the quality of life for affected individuals and their families.
The MAT1A gene plays a critical role in the body by encoding the enzyme methionine adenosyltransferase, which is essential for the biosynthesis of S-adenosylmethionine, a critical methyl donor involved in numerous metabolic processes. Deficiency in this enzyme due to mutations in the MAT1A gene can lead to a range of metabolic disorders, including hypermethioninemia, characterized by elevated methionine levels in the blood. This condition can have various clinical manifestations, from benign to severe neurological symptoms.
To diagnose this deficiency, a genetic test targeting the MAT1A gene can be conducted. This test is crucial for identifying mutations in the MAT1A gene that lead to methionine adenosyltransferase deficiency. The genetic test for MAT1A gene methionine adenosyltransferase deficiency is available at DNA Labs UAE, a facility equipped with advanced diagnostic technologies to provide accurate genetic testing services. The cost of the test is 4400 AED, and it involves analyzing the patient's DNA sample to detect mutations in the MAT1A gene. This test is particularly important for individuals with a family history of metabolic disorders or those exhibiting symptoms related to methionine adenosyltransferase deficiency, as early diagnosis can facilitate timely management and treatment strategies to mitigate the impact of the condition.
The HSD17B10 gene is associated with a rare condition known as Mental Retardation, X-Linked, Type 17. This genetic disorder is characterized by a spectrum of neurological and developmental issues, including cognitive impairment, speech delays, and, in some cases, behavioral problems. The condition is caused by mutations in the HSD17B10 gene, which is located on the X chromosome, and thus primarily affects males.
To diagnose this condition, a specific genetic test can be performed, which involves analyzing the DNA to identify mutations in the HSD17B10 gene. This test is crucial for confirming the diagnosis, understanding the severity of the condition, and guiding treatment and management decisions.
In the United Arab Emirates, DNA Labs UAE offers this specialized genetic test. The cost of the test is 4400 AED. DNA Labs UAE is equipped with advanced genetic testing facilities to provide accurate and reliable results. Opting for this test at DNA Labs UAE can be a vital step for families seeking answers about the condition and how to best support their loved ones affected by Mental Retardation, X-Linked, Type 17.
The RPS6KA3 gene, located on the X chromosome, plays a crucial role in cognitive development and function. Mutations in this gene are associated with Coffin-Lowry syndrome, a condition characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. This condition predominantly affects males, but females can be carriers and may exhibit milder symptoms. The "RPS6KA3 Gene Mental Retardation X-Linked Type 19 Genetic Test" is a specialized diagnostic tool aimed at detecting mutations within the RPS6KA3 gene to confirm a diagnosis of Coffin-Lowry syndrome or to identify carriers within a family. Conducted at DNA Labs UAE, a leading facility in genetic testing, this test provides families and individuals with critical information for managing the condition, understanding the risk of transmission to offspring, and accessing appropriate support and interventions. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in the RPS6KA3 gene.
