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SCNN1A Gene Bronchiectasis with or without elevated sweat chloride type 2 Genetic Test Cost
The SCNN1A gene plays a crucial role in regulating the movement of sodium in and out of cells, particularly in the lungs and sweat glands. Mutations in this gene can lead to a condition known as Bronchiectasis with or without elevated sweat chloride type 2, a rare form of lung disease characterized by chronic inflammation and infection of the bronchi, leading to their dilatation. This condition can also affect sweat chloride levels, a marker typically used for diagnosing cystic fibrosis, although it presents differently. To diagnose this specific genetic condition, DNA Labs UAE offers a specialized genetic test targeting the SCNN1A gene. The test, priced at 4400 AED, involves analyzing the patient's DNA to identify mutations in the SCNN1A gene that are known to cause Bronchiectasis with or without elevated sweat chloride type 2. This precise genetic testing is crucial for accurate diagnosis, guiding treatment options, and understanding the risk of passing the condition on to offspring. DNA Labs UAE utilizes advanced genetic testing techniques to ensure reliable and accurate results for patients and their families.
BCHE Gene Butyrylcholinesterase deficiency Genetic Test Cost
The BCHE gene butyrylcholinesterase deficiency genetic test is a specialized diagnostic procedure aimed at identifying mutations in the BCHE gene, which is responsible for producing the enzyme butyrylcholinesterase (BChE). This enzyme plays a crucial role in the process of breaking down certain types of drugs and toxins in the body, including muscle relaxants used during surgical procedures. A deficiency in BChE can lead to prolonged paralysis or apnea after exposure to these substances, posing significant health risks during medical treatments. The test is particularly recommended for individuals with a family history of BChE deficiency, those who have experienced unexpected reactions to anesthesia, or for those who are planning to undergo surgery and wish to ensure safe anesthesia use. By analyzing a DNA sample, usually obtained from a blood draw, the test identifies specific genetic mutations in the BCHE gene that lead to reduced activity or absence of the butyrylcholinesterase enzyme. Conducted at DNA Labs UAE, a leading provider of genetic testing services, the test offers a comprehensive analysis with a focus on accuracy and confidentiality. The cost of the test is set at 4400 AED, reflecting the specialized nature of the testing and the expertise required to accurately interpret the results. Upon completion, the results can provide valuable information for patients and healthcare providers to make informed decisions regarding anesthesia use and to take precautions to mitigate potential risks associated with BChE deficiency.
SLC22A5 Gene Carnitine deficiency Genetic Test Cost
The SLC22A5 gene is crucial for the proper transport of carnitine, a substance vital for converting fat into energy within cells. A mutation in this gene can lead to a condition known as carnitine uptake defect or systemic primary carnitine deficiency. This condition can cause muscle weakness, heart problems, and hypoglycemia, particularly during periods of fasting or illness. Early detection and treatment are vital for managing the condition effectively. The genetic test for SLC22A5 gene mutation is a comprehensive diagnostic tool aimed at identifying the presence of mutations that can lead to carnitine deficiency. This test is particularly important for individuals showing symptoms of the deficiency or those with a family history of the condition. By analyzing a sample of the individual's DNA, the test can confirm the diagnosis, allowing for early intervention and management strategies to be implemented. At DNA Labs UAE, the test for the SLC22A5 gene mutation is available for 4400 AED. The facility ensures a reliable and accurate testing process, conducted by experienced professionals. The test not only provides critical insights for affected individuals and their families but also guides healthcare providers in developing personalized treatment plans to manage the condition effectively.
CPT1A Gene Carnitine palmitoyltransferase 1A deficiency Genetic Test Cost
The CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to detect mutations in the CPT1A gene. This gene plays a crucial role in the metabolism of long-chain fatty acids, enabling their transport into mitochondria for energy production. Mutations in the CPT1A gene can lead to Carnitine Palmitoyltransferase 1A deficiency, a rare metabolic disorder that impairs the body's ability to convert certain fats into energy, particularly during periods of fasting or illness. This genetic test is vital for early detection and management of the condition, helping to prevent potential complications such as hypoketotic hypoglycemia, liver dysfunction, and neurodevelopmental issues. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any mutations in the CPT1A gene. The cost of the CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis necessary to accurately diagnose this condition, offering essential information for affected individuals and their families to manage the disorder effectively. Early diagnosis and intervention can significantly improve the quality of life for those with Carnitine Palmitoyltransferase 1A deficiency, making this test a critical resource for at-risk populations.
CPT1B Gene Carnitine palmitoyltransferase 1B deficiency Genetic Test Cost
The CPT1B gene is responsible for encoding the enzyme Carnitine Palmitoyltransferase 1B (CPT1B), which plays a critical role in the metabolism of long-chain fatty acids. This enzyme is essential for transporting long-chain fatty acids into the mitochondria, where they are broken down to produce energy. A deficiency in CPT1B can lead to metabolic disorders characterized by muscle weakness, hypoglycemia, and complications in liver function. Genetic testing for CPT1B deficiency is crucial for diagnosing this condition, enabling appropriate management and treatment strategies. The test involves analyzing the DNA to identify mutations in the CPT1B gene that may lead to the enzyme's malfunction. It is a vital tool for individuals presenting symptoms of fatty acid oxidation disorders or for those with a family history of such conditions. In the United Arab Emirates, DNA Labs UAE offers a comprehensive genetic test for CPT1B deficiency. The test is priced at 4400 AED and is conducted in their state-of-the-art facilities. This test is an important step towards personalized medical care, offering insights that can guide dietary and lifestyle adjustments, as well as potential interventions to manage or mitigate the effects of the deficiency. DNA Labs UAE ensures confidentiality and accuracy, providing a crucial service for individuals and families affected by or at risk of CPT1B deficiency.
SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test Cost
The SLC25A20 gene plays a crucial role in the body's metabolism by encoding the carnitine-acylcarnitine translocase (CACT) enzyme. This enzyme is essential for the transport of long-chain fatty acids into the mitochondria, where they are broken down to produce energy. Deficiency in this enzyme, known as Carnitine-Acylcarnitine Translocase (CACT) Deficiency, is a rare genetic condition that can lead to severe metabolic problems, including hypoglycemia, heart problems, liver dysfunction, and muscle weakness, often presenting in the newborn period or early infancy. To diagnose this condition, a genetic test targeting the SLC25A20 gene can be conducted. DNA Labs UAE offers this specific genetic test to detect mutations in the SLC25A20 gene that would confirm a diagnosis of CACT Deficiency. The test is crucial for early diagnosis and management of the condition, which can significantly improve the quality of life and prognosis for affected individuals. The cost of the SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to identify any mutations within the gene that could lead to the condition. Given the specialized nature of the test and the potential impact on patient care, the cost reflects the intricate processes and expertise involved in conducting such a genetic analysis.
PPT1 Gene Ceroid lipofuscinosis neuronal type 1 Genetic Test Cost
The PPT1 gene ceroid lipofuscinosis neuronal type 1 (CLN1) genetic test is a specialized diagnostic tool used to detect mutations in the PPT1 gene, which are associated with CLN1 disease, also known as infantile neuronal ceroid lipofuscinosis (INCL) or Santavuori-Haltia disease. This condition is a rare, inherited, neurodegenerative disorder that primarily affects the nervous system, leading to severe cognitive and motor decline, vision loss, and early death. Symptoms typically begin in infancy, making early diagnosis crucial for management and potential intervention strategies. The test is performed at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. The cost of the test is 4400 AED, reflecting the comprehensive analysis and expertise required to accurately identify the specific mutations in the PPT1 gene. This involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory using advanced genetic sequencing technologies. By identifying mutations in the PPT1 gene, this test can confirm a diagnosis of CLN1 disease, enabling affected families to make informed decisions about care, consider genetic counseling, and explore participation in clinical trials or emerging therapies. It also aids in the differentiation of CLN1 disease from other neurodegenerative disorders, ensuring that individuals receive the most appropriate support and management for their condition.
CTSD Gene Ceroid lipofuscinosis neuronal type 10 Genetic Test Cost
The CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 Genetic Test is a specialized diagnostic tool designed to identify mutations in the CTSD gene, which are associated with Neuronal Ceroid Lipofuscinosis Type 10 (NCL10), a rare and severe neurodegenerative disorder. This condition is part of a group of lysosomal storage diseases known as Batten disease, characterized by the accumulation of lipopigments in the body's tissues, leading to symptoms such as vision loss, motor decline, and cognitive impairment. Conducted at DNA Labs UAE, a leading facility in genetic testing, this test aims to provide conclusive evidence for the diagnosis of NCL10, enabling healthcare professionals to tailor treatment plans and offer genetic counseling to affected families. The test is particularly valuable for families with a history of the disorder or individuals showing symptoms suggestive of NCL10. The cost of the CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 Genetic Test is 4400 AED. While the price may seem steep, the test offers invaluable insights into the genetic underpinnings of the disease, paving the way for targeted interventions and support for patients and their families. It is an essential resource for those seeking clarity on their genetic status regarding this rare but impactful condition.
