Fucosidosis is a rare, genetic disorder that is caused by a deficiency of the enzyme alpha-L-fucosidase, which is necessary for breaking down complex sugar molecules in the body. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The gene responsible for this condition is known as FUCA1. DNA Labs UAE offers a comprehensive genetic test for the FUCA1 gene to help identify carriers of the gene and to aid in the diagnosis of fucosidosis in affected individuals.
Symptoms of FUCA1 Gene Fucosidosis
Fucosidosis is characterized by a wide range of symptoms, which can vary significantly in severity among affected individuals. The onset of symptoms typically occurs in infancy or early childhood. Some of the most common symptoms include:
- Delayed growth and development
- Intellectual disability
- Recurrent infections
- Coarse facial features
- Abnormal bone development
- Seizures
- Spasticity and muscle weakness
- Visual and hearing impairment
- Liver and spleen enlargement
- Skin lesions
It is important to note that the presence and severity of these symptoms can vary greatly from one individual to another. Early diagnosis and intervention are crucial for managing symptoms and improving the quality of life for those affected by fucosidosis.
FUCA1 Gene Fucosidosis Genetic Test at DNA Labs UAE
DNA Labs UAE is dedicated to providing accurate and comprehensive genetic testing services, including the FUCA1 gene fucosidosis genetic test. This test is designed to detect mutations in the FUCA1 gene that are responsible for fucosidosis. The test is recommended for individuals who have a family history of fucosidosis, couples who are planning to have children and want to assess their risk of passing the condition onto their offspring, and individuals who are exhibiting symptoms of fucosidosis.
The FUCA1 gene fucosidosis genetic test involves a simple blood draw or saliva sample from the individual. The sample is then analyzed in our state-of-the-art laboratory using advanced genetic sequencing techniques to identify any mutations in the FUCA1 gene.
Test Cost
The cost of the FUCA1 gene fucosidosis genetic test at DNA Labs UAE is 4400 AED. This price includes the cost of the sample collection, genetic analysis, and a comprehensive report detailing the test results. Our team of genetic counselors is also available to provide guidance and support to individuals and families affected by fucosidosis.
Learn More and Schedule Your Test
For more information about the FUCA1 gene fucosidosis genetic test and to schedule your test, please visit our website at https://dnalabsuae.com/tests/fuca1-gene-fucosidosis-genetic-test/. Our team is committed to providing the highest quality genetic testing services to help individuals and families understand their genetic health and make informed decisions about their care.
Understanding your genetic health is a crucial step towards managing your well-being and that of your family. DNA Labs UAE is here to support you every step of the way with accurate, reliable, and confidential genetic testing services.
