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Symptoms and Testing information for THRA Gene Hypothyroidism Congenital Nongoitrous Type 6 Genetic Test

Hypothyroidism is a condition characterized by the underproduction of thyroid hormones, which are crucial for metabolism regulation and overall health. Among its various types, Congenital Nongoitrous Hypothyroidism Type 6 (CHNG6) is a rare but significant form that stems from mutations in the THRA gene. This condition can lead to numerous health issues if not diagnosed

Symptoms and Testing information for PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test

— Hypotonia-Cystinuria Syndrome, caused by mutations in the PREPL gene, is a rare genetic condition that affects various body systems. This syndrome is characterized by muscle weakness (hypotonia), reduced muscle mass, growth hormone deficiency, and cystinuria, a condition where high levels of cystine are excreted in the urine, potentially leading to kidney stones. Understanding the

Symptoms and Testing information for NBAS Gene Infantile Liver Failure Syndrome Type 2 Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a comprehensive range of tests for various genetic conditions. Among these is the NBAS Gene Infantile Liver Failure Syndrome Type 2 Genetic Test, a crucial diagnostic tool for detecting this rare but serious condition in infants. This article aims to provide detailed

Symptoms and Testing information for CASR Gene Hyperparathyroidism Neonatal Severe Genetic Test

DNA Labs UAE is at the forefront of genetic testing, offering a wide array of services aimed at providing crucial insights into various genetic conditions. One such critical test offered is the CASR Gene Hyperparathyroidism Neonatal Severe Genetic Test. This test is specifically designed to detect mutations in the CASR gene, which can lead to

Symptoms and Testing information for AMT Gene Glycine Encephalopathy Genetic Test

Glycine encephalopathy, also known as non-ketotic hyperglycinemia, is a rare genetic disorder that affects the body’s ability to break down the amino acid glycine. This condition results from mutations in several genes, including the AMT gene, which plays a crucial role in the glycine cleavage system. Due to the complexity and rarity of this condition,

Symptoms and Testing information for GLDC Gene Glycine Encephalopathy Genetic Test

Glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH), is a rare genetic disorder affecting the body’s ability to break down the amino acid glycine. This condition results from mutations in several genes, including the GLDC gene. DNA Labs UAE offers a comprehensive genetic test for those concerned about this condition, providing essential insights into your

Symptoms and Testing information for CTNS Gene Cystinosis Nephropathic Genetic Test

Cystinosis is a rare, inherited metabolic disorder where the body accumulates the amino acid cystine within cells. This build-up leads to the formation of crystals that can damage various organs and tissues, especially the kidneys and eyes. The CTNS gene is responsible for this condition, and mutations in this gene lead to the different forms

Symptoms and Testing information for AQP2 Gene Diabetes Insipidus Nephrogenic Autosomal Genetic Test

— Understanding the nuances of genetic conditions is crucial for effective diagnosis and management. Among these, Nephrogenic Diabetes Insipidus (NDI) represents a unique challenge. It is a rare disorder affecting the kidneys’ ability to concentrate urine, leading to excessive urination and thirst. This condition is often linked to mutations in the AQP2 gene, which encodes