Crigler-Najjar syndrome type 1 is a rare genetic disorder that affects the metabolism of bilirubin, a yellow compound that is formed by the breakdown of red blood cells. This condition is caused by mutations in the UGT1A1 gene, which leads to a severe deficiency of the enzyme responsible for converting bilirubin into a form that can be excreted from the body. As a result, individuals with Crigler-Najjar syndrome type 1 accumulate high levels of unconjugated bilirubin in the blood, leading to jaundice and, in severe cases, neurological damage.
The symptoms of Crigler-Najjar syndrome type 1 typically appear in the neonatal period or early infancy. The most noticeable symptom is jaundice, which is characterized by a yellowing of the skin and the whites of the eyes. This jaundice is much more intense than the mild jaundice commonly seen in healthy newborns and does not resolve without treatment. If left untreated, the high levels of bilirubin can cross the blood-brain barrier and lead to kernicterus, a form of brain damage that can result in hearing loss, intellectual disability, and cerebral palsy.
Other symptoms may include fatigue, abdominal pain, and a general feeling of unwellness. However, these symptoms are less specific and can be associated with a variety of conditions, making the diagnosis of Crigler-Najjar syndrome type 1 challenging based solely on clinical presentation.
Given the serious nature of Crigler-Najjar syndrome type 1, early and accurate diagnosis is crucial. This is where genetic testing plays a vital role. The UGT1A1 Gene Crigler-Najjar Syndrome Type 1 Genetic Test is designed to identify mutations in the UGT1A1 gene, providing a definitive diagnosis of the condition. This test is particularly important for families with a history of the syndrome or for newborns exhibiting severe jaundice not responsive to standard treatments.
The cost of the UGT1A1 Gene Crigler-Najjar Syndrome Type 1 Genetic Test is 4400 AED. This cost covers the analysis of the UGT1A1 gene for specific mutations known to cause the syndrome. It is a critical step in the diagnostic process, offering families the information needed to pursue appropriate treatment and management strategies for affected individuals.
For more information on the UGT1A1 Gene Crigler-Najjar Syndrome Type 1 Genetic Test and to schedule a test, please visit DNA Labs UAE.
It is important for parents and healthcare providers to be aware of the symptoms of Crigler-Najjar syndrome type 1 and to consider genetic testing if this condition is suspected. Early diagnosis and intervention can significantly improve the quality of life for individuals with this rare genetic disorder.
