The TWNK Gene Perrault Syndrome Type 5 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the TWNK gene, which are associated with Perrault Syndrome Type 5. Perrault Syndrome is a rare genetic disorder characterized by sensorineural hearing loss in both males and females and premature ovarian failure in females. The test plays a crucial role in the early detection and management of this condition, enabling healthcare providers to offer tailored treatments and interventions.
At DNA Labs UAE, the test is offered at a cost of 4400 AED. The process involves collecting a DNA sample from the patient, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for any genetic anomalies in the TWNK gene. Results from this test can provide valuable insights into the patient's condition, guiding clinical decisions and offering families an understanding of the genetic underpinnings of their health concerns. This test is a vital resource for individuals with a family history of Perrault Syndrome or related symptoms, offering a path towards a more informed and proactive approach to health and wellness.
The PGK1 gene, responsible for encoding the enzyme phosphoglycerate kinase 1, plays a crucial role in the glycolytic pathway, converting 1,3-bisphosphoglycerate to 3-phosphoglycerate and generating ATP in the process. Deficiencies in this enzyme can lead to a range of clinical manifestations, including hemolytic anemia, myopathy, and neurological disorders, making the accurate diagnosis of PGK1 gene deficiency critical for proper management and treatment.
In response to the need for precise diagnostic tools, DNA Labs UAE offers a genetic test specifically designed to identify mutations in the PGK1 gene. This test is a comprehensive examination aimed at detecting genetic variations that could lead to phosphoglycerate kinase 1 deficiency, thereby providing essential information for clinicians to devise appropriate treatment strategies.
The cost of the PGK1 Gene Phosphoglycerate Kinase 1 Deficiency Genetic Test at DNA Labs UAE is set at 4400 AED. This investment covers the detailed analysis and the expertise required to interpret the results accurately, ensuring that patients receive the most relevant information regarding their genetic condition. By opting for this test, individuals suspected of having PGK1 deficiency can take a significant step towards understanding their condition and exploring potential treatment options.
The PSEN1 Gene Pick Disease Genetic Test is a specialized diagnostic procedure offered by DNA Labs UAE, designed to identify mutations in the PSEN1 gene, which are associated with Pick's disease, a type of frontotemporal dementia. This condition is characterized by changes in personality, behavior, and language due to brain cell damage. The PSEN1 gene plays a crucial role in the production of the presenilin 1 protein, involved in the processing of amyloid precursor protein, a substance that, when improperly cleaved, can lead to the accumulation of amyloid plaques, a hallmark of several forms of dementia, including Pick's disease.
The test is conducted through a blood sample, where DNA is extracted and analyzed for specific mutations in the PSEN1 gene. This genetic testing is crucial for individuals with a family history of Pick's disease or early-onset dementia, as it can provide vital information for the management and understanding of the condition. The cost of the PSEN1 Gene Pick Disease Genetic Test at DNA Labs UAE is 4400 AED, reflecting the sophisticated technology and expertise required to perform this detailed genetic analysis. Early detection through this test can be instrumental in planning the appropriate care and support for affected individuals and their families.
The TREM2 gene plays a critical role in the immune system, particularly in the brain's immune response. Mutations in this gene are linked to a rare condition known as Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. This genetic disorder is characterized by a combination of bone cysts leading to fractures and progressive neurological deterioration due to leukoencephalopathy, which affects the white matter of the brain.
To diagnose and understand the genetic basis of PLOSL, a genetic test targeting the TREM2 gene can be conducted. This test is crucial for confirming the diagnosis, understanding the risk of transmission to offspring, and guiding management and treatment decisions.
In the United Arab Emirates, DNA Labs UAE offers this specialized genetic test. The cost of the test is 4400 AED, making it accessible for those who require this critical diagnostic tool. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for mutations in the TREM2 gene. Results from this test can provide essential insights into the condition, facilitating targeted treatment and management strategies for affected individuals and their families.
The TYROBP gene plays a crucial role in the development of Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. This rare, genetic disorder is characterized by bone cysts and progressive neurological deterioration. The genetic test for identifying mutations in the TYROBP gene is crucial for diagnosing PLOSL, enabling early intervention and management of the condition.
DNA Labs UAE offers this specialized genetic test to detect mutations in the TYROBP gene associated with PLOSL. The test is performed using a sample of the patient's blood or saliva, employing advanced genetic sequencing techniques to accurately identify mutations. The cost of the test is 4400 AED, a valuable investment for individuals with a family history of the disorder or presenting symptoms of PLOSL, as it provides essential diagnostic information that can guide treatment and management decisions.
RBCK1 Gene Polyglucosan Body Myopathy Type 1 with or without Immunodeficiency is a rare genetic disorder characterized by the accumulation of polyglucosan bodies in muscle and nerve cells, leading to muscle weakness and, in some cases, immunodeficiency. The condition is caused by mutations in the RBCK1 gene, which plays a crucial role in the immune response and muscle function.
DNA Labs UAE offers a genetic test to diagnose this condition by analyzing the RBCK1 gene for mutations. This test is crucial for individuals showing symptoms of the disorder or those with a family history of the condition, as it can confirm the diagnosis and help in managing the symptoms effectively.
The cost of the RBCK1 Gene Polyglucosan Body Myopathy Type 1 with or Without Immunodeficiency Genetic Test at DNA Labs UAE is 4400 AED. This test is performed with a high level of accuracy, utilizing advanced genetic sequencing technologies to detect mutations in the RBCK1 gene. The result from this test can provide essential information for the patient's healthcare provider to devise an appropriate treatment and management plan, potentially improving the quality of life for affected individuals.
The NR2E1 gene plays a significant role in brain development, and mutations in this gene are linked to a rare neurological condition known as polymicrogyria, specifically affecting the occipital lobes bilaterally. Polymicrogyria is characterized by an excessive number of small and malformed cerebral cortical folds, which can lead to a range of neurological issues, including developmental delays, seizures, and difficulties with coordination and speech.
To diagnose this genetic condition, DNA Labs UAE offers a specialized genetic test targeting the NR2E1 gene. This test is designed to identify mutations that may be responsible for bilateral occipital polymicrogyria, providing crucial information for accurate diagnosis and potential management strategies for affected individuals. The cost of the test is 4400 AED, reflecting the advanced technology and expertise required to accurately detect and interpret mutations in the NR2E1 gene. Conducting this test can be a critical step for families seeking answers to developmental and neurological challenges faced by their loved ones, enabling access to targeted support and interventions.
The GAA Gene Pompe Disease Genetic Test is a specialized diagnostic procedure designed to identify mutations in the GAA gene, which are responsible for Pompe Disease. This condition, also known as Glycogen Storage Disease Type II, is a rare and often fatal genetic disorder that impairs the body's ability to break down glycogen due to the deficiency of the lysosomal acid alpha-glucosidase enzyme. The accumulation of glycogen in cells, especially muscle cells, leads to progressive muscle weakness, heart and respiratory problems, and, in severe cases, premature death.
The test involves analyzing the patient's DNA to detect mutations in the GAA gene, offering crucial information for the diagnosis, management, and treatment planning of Pompe Disease. It is particularly important for families with a history of the condition, individuals showing symptoms of muscle weakness and respiratory difficulties, and couples considering pregnancy who wish to understand their genetic risks.
Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the GAA Gene Pompe Disease Genetic Test ensures accuracy and confidentiality, providing patients and healthcare providers with critical insights into this genetic disorder. The cost of the test is set at 4400 AED, reflecting the intricate processes and advanced technology required to accurately identify the GAA gene mutations. This investment can be invaluable for affected families, offering a pathway to early intervention and tailored treatment strategies that can significantly improve quality of life and outcomes for individuals with Pompe Disease.
The VRK1 Gene Pontocerebellar Hypoplasia Type 1A Genetic Test is a specialized diagnostic assessment conducted to identify mutations in the VRK1 gene, which are linked to Pontocerebellar Hypoplasia Type 1A (PCH1A). PCH1A is a rare genetic disorder characterized by the underdevelopment of the cerebellum and brainstem, leading to severe neurological impairments. This condition manifests early in life, affecting motor functions, cognitive development, and in many cases, leading to early mortality.
The test is crucial for families with a history of PCH1A, as it provides definitive genetic evidence of the disorder, enabling accurate diagnosis, management, and genetic counseling. The process involves collecting a DNA sample, typically through a blood draw, which is then analyzed in the laboratory for mutations in the VRK1 gene.
Conducted at DNA Labs UAE, a leading facility in genetic testing, the VRK1 Gene Pontocerebellar Hypoplasia Type 1A Genetic Test ensures high precision and reliability. The cost of the test is 4400 AED, reflecting the comprehensive analysis and detailed reporting provided. This test is a vital tool for healthcare providers and families affected by PCH1A, offering insights into the condition and aiding in the development of personalized care plans.
The "EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test" is a specialized diagnostic procedure designed to identify mutations in the EXOSC3 gene, which are linked to Pontocerebellar Hypoplasia Type 1B (PCH1B). This rare genetic disorder affects the development of the brain, particularly the pons and cerebellum, leading to significant neurological impairments. The test is crucial for early diagnosis, enabling appropriate management and care planning for affected individuals. Conducted at DNA Labs UAE, a leading facility in genetic testing, the test offers a comprehensive analysis of the EXOSC3 gene to detect any abnormalities. The cost of the test is set at 4400 AED, reflecting the intricate technology and expertise required to accurately identify mutations associated with this condition. Through this test, families can gain essential insights into the genetic underpinnings of PCH1B, facilitating informed decisions about treatment options and genetic counseling.
