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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.
CPT2 Gene Carnitine palmitoyltransferase 2 deficiency infantile Genetic Test Cost
The CPT2 gene is responsible for encoding the enzyme Carnitine Palmitoyltransferase II, crucial in the mitochondrial oxidation of long-chain fatty acids. A deficiency in this enzyme, known as Carnitine Palmitoyltransferase II Deficiency, can lead to severe metabolic problems, particularly affecting the muscle and heart. The infantile form of this deficiency presents early in life with symptoms including hypoketotic hypoglycemia, cardiomyopathy, liver dysfunction, and muscle weakness. To diagnose this condition, a genetic test targeting the CPT2 gene can be conducted. DNA Labs UAE offers such a test, providing a definitive diagnosis by identifying mutations in the CPT2 gene that cause the disorder. This is crucial for early intervention, management strategies, and genetic counseling for affected families. The cost of the CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency Infantile Genetic Test at DNA Labs UAE is 4400 AED. This investment in testing is vital for the early detection and management of this metabolic disorder, potentially improving the quality of life and outcomes for affected infants.
CPT2 Gene Carnitine palmitoyltransferase 2 deficiency lethal neonatal Genetic Test Cost
The CPT2 gene is responsible for the production of the Carnitine Palmitoyltransferase II enzyme, which plays a critical role in the body's ability to convert fats into energy, particularly during periods of fasting. A deficiency in this enzyme due to mutations in the CPT2 gene can lead to a condition known as Carnitine Palmitoyltransferase II deficiency. This metabolic disorder can manifest in various forms, with the lethal neonatal form being the most severe. Affected infants experience significant health issues soon after birth, including liver dysfunction, cardiovascular problems, and muscle weakness, often leading to fatal outcomes if not promptly diagnosed and treated. To diagnose this genetic condition, DNA Labs UAE offers a specialized genetic test targeting the CPT2 gene to identify mutations that may lead to Carnitine Palmitoyltransferase II deficiency. The test is crucial for early detection, especially in the neonatal period, allowing for timely intervention and management strategies to be implemented. This test is priced at 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify and interpret genetic mutations associated with this condition. Conducted in a state-of-the-art laboratory setting by qualified geneticists, this test represents a vital tool in the battle against lethal neonatal Carnitine Palmitoyltransferase II deficiency, offering hope for affected families through early diagnosis and the potential for targeted treatment strategies.
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.
COMT Gene Catechol-o-methyltransferase deficiency Genetic Test Cost
The COMT Gene Catechol-O-methyltransferase deficiency genetic test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to detect mutations in the COMT gene. This gene plays a crucial role in the metabolism of catecholamines, such as dopamine, epinephrine, and norepinephrine, which are vital neurotransmitters and hormones involved in various bodily functions, including mood regulation, cognition, and the body's response to stress. Mutations in the COMT gene can lead to a deficiency in the COMT enzyme, potentially resulting in a range of neurological and psychiatric conditions, including mood disorders, anxiety, and schizophrenia. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to identify any mutations in the COMT gene. This genetic testing is crucial for individuals who exhibit symptoms related to COMT deficiency or have a family history of related conditions, as it can provide valuable information for diagnosis, treatment planning, and genetic counseling. At DNA Labs UAE, the COMT Gene Catechol-O-methyltransferase deficiency genetic test is available for a cost of 4400 AED. This comprehensive testing service not only offers an accurate diagnosis but also provides a foundation for personalized treatment strategies, helping patients manage their symptoms more effectively.
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.