The "ITPR1 Gene Gillespie Syndrome Genetic Test" is a specialized diagnostic procedure conducted to detect mutations in the ITPR1 gene, which are linked to Gillespie Syndrome, a rare genetic disorder. This syndrome is characterized by partial aniridia (a condition where the iris is partially absent), ataxia (lack of muscle coordination), and intellectual disability. The test is crucial for confirming the diagnosis, enabling early intervention, and providing targeted management to affected individuals.
Conducted at DNA Labs UAE, a leading facility in genetic testing, the test offers a comprehensive analysis of the ITPR1 gene to identify any genetic abnormalities that may be responsible for the syndrome. The cost of the test is 4400 AED, reflecting the advanced technology and expertise required to accurately diagnose this rare condition. Through this test, families and healthcare providers can gain valuable insights into the genetic basis of Gillespie Syndrome, facilitating informed decisions about care and support for those affected.
The SLC2A1 gene is crucial for encoding the glucose transporter protein GLUT1, which facilitates the transport of glucose across the blood-brain barrier to fuel the brain. GLUT1 Deficiency Syndrome Type 1 is a rare genetic disorder that arises from mutations in the SLC2A1 gene, leading to inadequate glucose transport into the brain. This condition can result in a spectrum of neurological issues, including developmental delay, seizures, movement disorders, and speech difficulties.
To diagnose this condition, a genetic test targeting the SLC2A1 gene can be conducted. This test identifies mutations in the SLC2A1 gene that are responsible for GLUT1 Deficiency Syndrome Type 1. DNA Labs UAE offers this specialized genetic test, providing a crucial tool for diagnosing affected individuals. The test is priced at 4400 AED and involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of mutations in the SLC2A1 gene.
Early diagnosis through genetic testing is vital for managing GLUT1 Deficiency Syndrome Type 1, as it can guide treatment strategies, including dietary modifications like the ketogenic diet, which has been shown to improve symptoms in affected individuals.
The AMT Gene Glycine Encephalopathy Genetic Test is a specialized diagnostic procedure designed to detect mutations in the AMT gene, which are associated with Glycine Encephalopathy, also known as Nonketotic Hyperglycinemia (NKH). This condition is a rare genetic disorder characterized by an excess of glycine in the brain, leading to severe neurological symptoms such as intellectual disability, seizures, and hypotonia. 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 buccal swab. The laboratory then examines the AMT gene for specific mutations known to cause Glycine Encephalopathy. This test is particularly important for families with a history of the condition or for newborns showing symptoms suggestive of NKH.
The cost of the AMT Gene Glycine Encephalopathy Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem significant, the value of obtaining a definitive diagnosis cannot be overstated, as it opens the door to targeted treatments and interventions that can significantly improve outcomes for those affected by this challenging condition.
The GCSH Gene Glycine Encephalopathy Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the GCSH gene, which are associated with Glycine Encephalopathy, also known as Non-Ketotic Hyperglycinemia (NKH). This condition is a rare but severe metabolic disorder that affects the brain and nervous system, leading to a wide range of neurological symptoms. Early detection through genetic testing is crucial for managing the condition and providing appropriate treatment to improve the quality of life for affected individuals.
The test is available at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. The cost of the GCSH Gene Glycine Encephalopathy Genetic Test is 4400 AED. This comprehensive test involves analyzing the patient's DNA to look for specific mutations in the GCSH gene that are known to cause Glycine Encephalopathy. By identifying these mutations, healthcare providers can confirm a diagnosis, understand the severity of the condition, and tailor treatment plans accordingly. DNA Labs UAE employs state-of-the-art technology and highly qualified professionals to ensure accurate and reliable test results, making it a trusted choice for genetic testing in the region.
The MGAT2 Gene Glycosylation Disorder Type 2A Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to detect mutations in the MGAT2 gene. These mutations are responsible for a rare condition known as Congenital Disorder of Glycosylation Type IIa (CDG-IIa), which affects the body's ability to properly attach sugar molecules to proteins (glycosylation). This disorder can lead to a wide range of symptoms, including developmental delay, intellectual disabilities, and abnormalities in various organs.
The test is conducted through a comprehensive analysis of the patient's DNA, specifically targeting the MGAT2 gene to identify any genetic alterations. Given the complexity and precision of the testing process, the cost for this genetic test is set at 4400 AED. DNA Labs UAE utilizes advanced genomic technologies to ensure accurate and reliable results, providing essential information for the diagnosis, management, and potential treatment of this genetic condition. This test is crucial for families seeking answers to unexplained symptoms related to glycosylation disorders, offering a path towards better understanding and management of the condition.
The SLC35C1 gene glycosylation disorder, also known as Congenital Disorder of Glycosylation Type 2C (CDG-IIc) or Leukocyte Adhesion Deficiency Type II, is a rare genetic condition that affects the body's ability to glycosylate proteins and lipids, which are crucial for various cellular functions. This disorder is caused by mutations in the SLC35C1 gene, which encodes a GDP-fucose transporter responsible for the transport of GDP-fucose into the Golgi apparatus, where it is utilized for fucosylation of glycoconjugates.
Individuals with this condition often present with a range of symptoms, including severe mental and growth retardation, abnormal fat distribution, seizures, and susceptibility to infections due to impaired leukocyte adhesion. Given the complexity and rarity of this disorder, genetic testing is vital for accurate diagnosis and management.
In the United Arab Emirates, DNA Labs UAE offers a genetic test specifically targeting the SLC35C1 gene to identify mutations associated with the glycosylation disorder type 2C. The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory using advanced genetic sequencing techniques to detect the presence of mutations in the SLC35C1 gene.
This genetic test is crucial for families with a history of the disorder, individuals showing symptoms, or those needing a definitive diagnosis for clinical management and genetic counseling. Early diagnosis through genetic testing like the one offered at DNA Labs UAE can lead to better management of symptoms and improved quality of life for affected individuals.
The ALG6 Gene Glycosylation Disorder Type 1C Genetic Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to identify mutations in the ALG6 gene. These mutations are responsible for a type of Congenital Disorders of Glycosylation (CDG), specifically Type 1C, a rare genetic condition. CDGs are a group of inherited metabolic disorders that affect the glycosylation process, where sugars are attached to proteins and lipids, impacting multiple systems in the body including the nervous system, immune system, and gastrointestinal system.
This test, priced at 4400 AED, involves analyzing the patient's DNA to detect any abnormalities in the ALG6 gene that may lead to the disorder. Early detection through this genetic testing is crucial for managing symptoms and improving the quality of life for affected individuals. DNA Labs UAE utilizes advanced genetic testing technologies to ensure accurate and reliable results, providing essential information for the diagnosis, treatment planning, and family genetic counseling of ALG6-CDG Type 1C.
The DPM1 Gene Glycosylation Disorder Type 1E Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to detect mutations in the DPM1 gene, which are linked to Congenital Disorders of Glycosylation Type 1E (CDG-1E). These disorders are a group of rare genetic conditions that affect the normal process of glycosylation, the addition of sugars to proteins, which is crucial for proper protein function and cellular operations.
CDG-1E is characterized by a wide range of symptoms, including developmental delay, neurological issues, and abnormalities in organ function, stemming from the body's inability to properly attach sugar molecules to proteins. Early and accurate diagnosis through genetic testing is essential for managing symptoms and improving the quality of life for affected individuals.
The test at DNA Labs UAE involves collecting a DNA sample, typically through a blood draw, and analyzing it for specific mutations in the DPM1 gene that are indicative of CDG-1E. The cost for this comprehensive genetic test is 4400 AED. Given the complexity and rarity of the condition, having access to this test represents a critical step towards personalized care and management for patients with suspected CDG-1E, offering families hope and direction in navigating this challenging condition.
The DPAGT1 gene glycosylation disorder type 1J genetic test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the DPAGT1 gene. These mutations can lead to a rare condition known as Congenital Disorder of Glycosylation Type 1j (CDG-1j), which affects the normal process of glycosylation, an essential biological mechanism where sugar molecules are attached to proteins and lipids, impacting their stability and function. This disorder can present with a wide range of symptoms, including developmental delay, neurological issues, and problems with the digestive system, among others.
Given the complexity of CDG-1j and the importance of early diagnosis for managing the condition, the test provided by DNA Labs UAE is crucial for families with a history of the disorder or presenting symptoms. At a cost of 4400 AED, the test is conducted using advanced genetic sequencing techniques to ensure accuracy and reliability in detecting any mutations in the DPAGT1 gene. Results from this test can provide essential information for diagnosis, allowing healthcare providers to develop a tailored management and treatment plan for affected individuals.
The DOLK Gene Glycosylation Disorder Type 1M Genetic Test is a specialized diagnostic assessment designed to identify mutations in the DOLK gene, which can lead to Congenital Disorders of Glycosylation Type 1m (CDG-1m). This condition is a rare genetic disorder that affects the normal process of glycosylation, the attachment of sugars to proteins and lipids, which is crucial for various cellular functions. Mutations in the DOLK gene disrupt this process, leading to a range of symptoms including developmental delay, skin abnormalities, and potential issues with the heart, liver, and muscles.
The test is conducted at DNA Labs UAE, a leading facility in genetic testing and analysis. Utilizing advanced genetic sequencing technologies, the test examines the DOLK gene for specific mutations known to cause the disorder. This precise approach allows for an accurate diagnosis, which is essential for developing an effective treatment plan and providing genetic counseling.
The cost of the DOLK Gene Glycosylation Disorder Type 1M Genetic Test is 4400 AED. While the price may seem significant, the value of obtaining a precise diagnosis cannot be overstated, as it opens the door to targeted interventions that can significantly improve the quality of life for affected individuals. Additionally, the test provides vital information for family planning and the assessment of risk for future children.
