At DNA Labs UAE, we are committed to providing comprehensive genetic testing services that cater to a wide range of genetic conditions, including the GBA Gene Gaucher Disease Perinatal Lethal Genetic Test. Gaucher disease is a rare genetic disorder caused by a deficiency in the enzyme glucocerebrosidase. This deficiency leads to the accumulation of glucocerebroside in various organs, particularly the spleen, liver, and bone marrow, which can cause a range of symptoms and complications. The perinatal lethal form of Gaucher disease is the most severe and rarest subtype, characterized by significant health challenges that can be life-threatening from birth.
Symptoms of GBA Gene Gaucher Disease Perinatal Lethal Form
The perinatal lethal form of Gaucher disease presents with a spectrum of symptoms that are severe and rapidly progressive. It is important for parents and healthcare providers to be aware of these symptoms for early diagnosis and management. Key symptoms include:
- Hydrops fetalis: An abnormal accumulation of fluid in two or more fetal compartments, leading to severe swelling in the fetus.
- Hepatosplenomegaly: An abnormal enlargement of both the liver and spleen.
- Neurological impairment: Severe neurological issues due to the accumulation of glucocerebroside in the brain, affecting the infant’s ability to move, swallow, or even breathe effectively.
- Ichthyosis: A condition characterized by dry, thickened, scaly, or flaky skin.
- Arthrogryposis: Joint stiffness and contractures that are present at birth.
- Non-immune hydrops fetalis: A condition without an immunological basis, leading to severe edema and fluid accumulation in the fetus.
It is crucial to recognize that the perinatal lethal form of Gaucher disease is associated with a high mortality rate, often leading to death in utero or shortly after birth. Early genetic testing and diagnosis are paramount in managing the condition and providing supportive care to the affected newborns and their families.
GBA Gene Gaucher Disease Perinatal Lethal Genetic Test at DNA Labs UAE
DNA Labs UAE offers the GBA Gene Gaucher Disease Perinatal Lethal Genetic Test for AED 4400. This test is designed to identify mutations in the GBA gene, which are responsible for Gaucher disease. Early and accurate diagnosis through genetic testing can provide essential information for families and healthcare providers, enabling them to make informed decisions about care and management.
The genetic test involves a simple blood draw from the parents or the affected individual. Our state-of-the-art laboratory uses advanced genetic sequencing technologies to analyze the GBA gene for mutations associated with the perinatal lethal form of Gaucher disease. Results from the test can help in understanding the risk of having another child with the condition, guide treatment options, and offer insights into the prognosis.
For more information about the GBA Gene Gaucher Disease Perinatal Lethal Genetic Test and to schedule your test, please visit our website.
At DNA Labs UAE, we are dedicated to providing you with accurate, confidential, and timely genetic testing services. Our team of experts is here to support you through every step of the process, from pre-test counseling to post-test support. If you have any questions or need further assistance, please do not hesitate to contact us.
