Galactosemia is a rare genetic disorder that affects an individual’s ability to metabolize the sugar galactose properly. It is caused by mutations in the GALT gene, which is responsible for encoding the enzyme galactose-1-phosphate uridylyltransferase. This enzyme plays a crucial role in the breakdown of galactose, a sugar found in milk and dairy products. When the GALT gene is mutated, the enzymatic activity is either reduced or absent, leading to the accumulation of galactose in the blood, which can result in various health issues. Recognizing the symptoms of galactosemia and undergoing a GALT gene mutation detection test are essential steps in managing and treating this condition effectively.
Symptoms of Galactosemia
Galactosemia presents a range of symptoms that can vary in severity from individual to individual. Early detection and intervention are vital, as untreated galactosemia can lead to life-threatening complications. Some of the common symptoms associated with galactosemia include:
- Failure to thrive in newborns
- Jaundice (yellowing of the skin and eyes)
- Enlarged liver
- Cataracts
- Poor weight gain and growth
- Feeding difficulties
- Lethargy
- Convulsions
- Irritability
- Infections
It is crucial for parents and healthcare providers to be aware of these symptoms, especially in newborns and infants, as early diagnosis and dietary management can prevent the severe outcomes associated with galactosemia.
GALT Gene Mutation Detection Test
The GALT gene mutation detection test is a diagnostic tool used to identify mutations in the GALT gene that are responsible for galactosemia. This test is performed using a blood sample and can be done at any age. It is particularly recommended for newborns who exhibit symptoms of galactosemia or have a family history of the condition. The test is also beneficial for couples with a history of galactosemia in their families who are planning to have children.
At DNA Labs UAE, we offer the Galactosemia GALT Gene Mutation Detection Test to help diagnose this condition accurately. Our state-of-the-art laboratory is equipped with advanced technology to ensure precise and reliable test results. Understanding the genetic basis of galactosemia is crucial for effective management and treatment, and our test aims to provide this vital information.
Test Cost
The cost of the Galactosemia GALT Gene Mutation Detection Test at DNA Labs UAE is 1600 AED. This cost includes the testing fee and a comprehensive report, which will be provided upon completion of the test. Our team of genetic counselors is also available to help interpret the results and provide guidance on the next steps.
Conclusion
Galactosemia is a serious genetic disorder that, if left untreated, can lead to significant health problems. Early detection through symptoms recognition and confirmation via the GALT gene mutation detection test are critical for managing the condition effectively. DNA Labs UAE is committed to providing accurate and reliable genetic testing services, including the Galactosemia GALT Gene Mutation Detection Test, to support the health and well-being of individuals and families affected by this condition.
For more information about the Galactosemia GALT Gene Mutation Detection Test and to schedule a test, please visit our website at https://dnalabsuae.com/tests/galactosemia-galt-gene-mutation-detection-test/.
