In the realm of medical genetics, understanding the underlying causes of various diseases is paramount for diagnosis, treatment, and, in some cases, prevention. One such condition that has garnered attention for its genetic roots is Hirschsprung disease (HSCR), particularly its association with mutations in the ZEB2 gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including the ZEB2 Gene Hirschsprung Disease Genetic Test, designed to aid in the diagnosis of this condition. This article delves into the symptoms associated with Hirschsprung disease linked to ZEB2 gene mutations and provides essential information about the genetic test available at DNA Labs UAE.
Symptoms of Hirschsprung Disease Linked to ZEB2 Gene Mutations
Hirschsprung disease is a congenital condition characterized by the absence of nerve cells (ganglia) in a portion of the intestine. This absence leads to a blockage of the intestine, preventing normal bowel movements. Symptoms can vary depending on the extent of the affected intestine but typically include:
- Chronic constipation, which can be severe and is often noticed shortly after birth.
- Swollen belly and gas, which are indicative of bowel obstruction.
- Failure to thrive, which refers to a lack of expected normal physical growth or weight gain in children.
- Delayed passage of meconium, which is the first stool of an infant, usually passed within the first 48 hours after birth.
- Enterocolitis, an inflammation of the colon and small intestine, which can be life-threatening if not treated promptly.
It is important to note that the severity and presence of symptoms can vary widely among individuals affected by Hirschsprung disease. Some may experience mild symptoms, while others may have more severe manifestations of the disease.
ZEB2 Gene Hirschsprung Disease Genetic Test
DNA Labs UAE offers a specialized genetic test for Hirschsprung disease, focusing on mutations in the ZEB2 gene. The ZEB2 gene plays a crucial role in the development of the nervous system, including the nerve cells in the intestines. Mutations in this gene can lead to the developmental issues associated with Hirschsprung disease.
The genetic test provided by DNA Labs UAE involves collecting a small sample of blood or saliva from the patient. This sample is then analyzed in the laboratory to identify any mutations in the ZEB2 gene. The results of this test can provide valuable information for the diagnosis and management of Hirschsprung disease, particularly in cases where the disease is suspected based on clinical symptoms.
Test Cost and Additional Information
The cost of the ZEB2 Gene Hirschsprung Disease Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the collection of the sample, the genetic analysis, and a comprehensive report of the findings. For those interested in learning more about the test or scheduling an appointment, additional information can be found on the official DNA Labs UAE website.
For further details, visit DNA Labs UAE.
Understanding the genetic underpinnings of Hirschsprung disease is crucial for effective diagnosis and management. With advancements in genetic testing, such as the ZEB2 Gene Hirschsprung Disease Genetic Test offered by DNA Labs UAE, individuals at risk or showing symptoms of the disease can receive accurate diagnoses and appropriate care. The availability of this test underscores the importance of genetics in modern medicine and provides hope for those affected by Hirschsprung disease.