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Symptoms and Testing information for PSPH Gene Phosphoserine Phosphatase Deficiency Genetic Test

Symptoms and Testing information for PSPH Gene Phosphoserine Phosphatase Deficiency Genetic Test

Understanding the symptoms of PSPH gene phosphoserine phosphatase deficiency is crucial for early diagnosis and management of this rare genetic disorder. DNA Labs UAE offers a comprehensive genetic test for this condition, providing a vital resource for individuals and families seeking answers. This article explores the symptoms associated with PSPH gene phosphoserine phosphatase deficiency and […]

Symptoms and Testing information for PSAT1 Gene Phosphoserine Aminotransferase Deficiency Genetic Test

Symptoms and Testing information for PSAT1 Gene Phosphoserine Aminotransferase Deficiency Genetic Test

In the realm of genetic diagnostics, DNA Labs UAE stands at the forefront, offering a wide array of genetic testing services designed to provide insights into various genetic disorders. Among these, the PSAT1 Gene Phosphoserine Aminotransferase Deficiency Genetic Test is pivotal for individuals experiencing symptoms associated with this rare but significant metabolic disorder. This test, […]

Symptoms and Testing information for PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity Genetic Test

Symptoms and Testing information for PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity Genetic Test

Understanding PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity Phosphoribosylpyrophosphate Synthetase Superactivity, caused by mutations in the PRPS1 gene, is a rare genetic disorder that can lead to a range of health issues, including neurological disorders, gout, and kidney stones. The PRPS1 gene plays a crucial role in the biosynthesis of purine and pyrimidine nucleotides, which are essential […]

Symptoms and Testing information for PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test

Symptoms and Testing information for PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test

Symptoms of PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare genetic disorder that can significantly impact an individual’s health. This condition arises from mutations in the PHGDH gene, which plays a crucial role in the biosynthesis of serine, an amino acid essential for various physiological processes. Understanding the symptoms of PHGDH […]

Symptoms and Testing information for PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test

Symptoms and Testing information for PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency Mitochondrial Genetic Test

— Understanding the symptoms of PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is crucial for early diagnosis and management of this rare metabolic disorder. At DNA Labs UAE, we offer a comprehensive mitochondrial genetic test specifically designed to identify mutations in the PCK2 gene, which plays a significant role in gluconeogenesis, the process of producing glucose from […]

Symptoms and Testing information for PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic Genetic Test

Symptoms and Testing information for PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency Cytosolic Genetic Test

Phosphoenolpyruvate Carboxykinase (PCK1) deficiency is a rare genetic disorder that affects the body’s ability to regulate glucose production. This condition is characterized by an inability to properly convert certain substances in the liver into glucose, leading to hypoglycemia and other related symptoms. Understanding the symptoms and undergoing timely genetic testing can significantly aid in managing […]

Symptoms and Testing information for SLC7A5 Gene Phenylketonuria Modifier SLC7A5 Related Genetic Test

Symptoms and Testing information for SLC7A5 Gene Phenylketonuria Modifier SLC7A5 Related Genetic Test

Phenylketonuria (PKU) is a genetic disorder that affects the body’s ability to break down the amino acid phenylalanine, leading to its accumulation in the body. This accumulation can cause a variety of health problems, including intellectual disability, developmental delays, and psychiatric disorders. However, the severity of PKU symptoms can vary widely among affected individuals, partly […]

Symptoms and Testing information for PAH Gene Phenylketonuria Genetic Test

Symptoms and Testing information for PAH Gene Phenylketonuria Genetic Test

Phenylketonuria (PKU) is a rare genetic disorder that affects an individual’s ability to break down an amino acid called phenylalanine, which is found in all proteins and some artificial sweeteners. This condition is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which is necessary for converting phenylalanine into tyrosine, another amino acid that […]

Symptoms and Testing information for TNFRSF1A Gene Periodic Fever Autosomal Dominant Genetic Test

Symptoms and Testing information for TNFRSF1A Gene Periodic Fever Autosomal Dominant Genetic Test

Periodic fever syndromes are a group of disorders characterized by recurrent episodes of fever and inflammation with no apparent cause. Among these, the TNFRSF1A gene-related periodic fever, also known as TNF receptor-associated periodic syndrome (TRAPS), is a rare autosomal dominant condition. Understanding the symptoms and undergoing a genetic test for the TNFRSF1A gene can be […]

Symptoms and Testing information for DCXR Gene Pentosuria Genetic Test

Symptoms and Testing information for DCXR Gene Pentosuria Genetic Test

In the realm of genetic testing, understanding the intricacies of our DNA can unlock answers to many health-related questions. One such area of interest is the DCXR gene and its association with Pentosuria, a rare genetic condition. At DNA Labs UAE, we offer a comprehensive genetic test designed to identify mutations in the DCXR gene, […]

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