DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive array of services aimed at understanding genetic conditions and providing vital information that can aid in diagnosis, treatment, and management. Among the various tests offered, the VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive Genetic Test is a critical tool for diagnosing a rare but serious condition. This test, priced at 4400 AED, is designed to identify mutations in the VPS45 gene, which can lead to Severe Congenital Neutropenia Type 5 (SCN5), an autosomal recessive disorder.
Symptoms of VPS45 Gene Neutropenia Severe Congenital Type 5
SCN5 is characterized by a marked decrease in neutrophil count, leading to an increased susceptibility to infections from an early age. The symptoms can vary but typically include:
- Recurrent bacterial infections: Patients often experience frequent and severe infections, including pneumonia, otitis media, and skin infections.
- Oral ulcers and periodontal disease: Painful sores in the mouth and gum disease are common due to the reduced ability to fight off bacteria.
- Skin rashes: Eczema or other skin rashes may appear, often exacerbated by infection.
- Failure to thrive: Children with SCN5 may experience delayed growth and development due to the energy expended in fighting infections.
- Fevers of unknown origin: Persistent or recurrent fevers without a clear source are a hallmark of this condition, indicating an immune system constantly at work.
Understanding these symptoms is crucial for early diagnosis and intervention, which can significantly improve the quality of life for those affected.
The Importance of Genetic Testing for SCN5
Genetic testing plays a pivotal role in diagnosing SCN5. The VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive Genetic Test offered by DNA Labs UAE is a targeted test that looks for mutations in the VPS45 gene. These mutations disrupt the normal function of neutrophils, a type of white blood cell essential for fighting off infections. Identifying a mutation in the VPS45 gene confirms the diagnosis of SCN5 and enables tailored treatment plans to be developed.
What to Expect from the Test
The test process is straightforward and involves collecting a small sample of blood or saliva. This sample is then analyzed in the laboratory to detect any genetic mutations associated with SCN5. The cost of the test is 4400 AED, an investment in obtaining a definitive diagnosis and guiding the management of the condition.
Why Choose DNA Labs UAE?
DNA Labs UAE is a leader in genetic testing, with a state-of-the-art laboratory equipped with the latest technology and staffed by experts in the field. The lab is committed to providing accurate, reliable, and timely results. Choosing DNA Labs UAE for the VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive Genetic Test means opting for quality, expertise, and peace of mind.
For more information on this test and to schedule your appointment, please visit DNA Labs UAE.
Understanding your genetic health is crucial in taking proactive steps towards managing your well-being. With DNA Labs UAE, you can rest assured that you are in capable hands, receiving comprehensive support throughout the testing process and beyond.
