Achondroplasia is a common form of dwarfism that affects approximately 1 in 25,000 newborns worldwide. It is characterized by a specific set of physical features and health complications, most of which are attributed to mutations in the FGFR3 gene. The G1138A and G1138C mutations within this gene are among the most prevalent causes of this condition. Understanding these mutations and their implications is crucial for early diagnosis and management of achondroplasia. DNA Labs UAE offers a comprehensive mutation analysis test for the FGFR3 gene, specifically targeting the G1138A and G1138C mutations, to aid in the diagnosis of this condition.
Symptoms of Achondroplasia
Achondroplasia presents with a distinct set of physical characteristics and health issues. The most noticeable symptoms include short stature, disproportionately short arms and legs, especially the upper arms and thighs, and a large head with a prominent forehead. Other features may include a curved lower spine, bowed legs, and limited range of motion at the elbows. Infants with achondroplasia may also have an increased risk of developing breathing difficulties and middle ear infections, which can lead to hearing loss if not properly managed.
Understanding the FGFR3 Gene Mutations: G1138A and G1138C
The FGFR3 gene plays a crucial role in bone development and maintenance. Mutations in this gene, specifically the G1138A and G1138C mutations, lead to an abnormality in the protein that the gene codes for. This abnormality causes the bones to stop growing prematurely, leading to the characteristic short stature associated with achondroplasia. While these mutations can be inherited from a parent who has achondroplasia, approximately 80% of cases occur due to spontaneous mutations in the sperm or egg cells of parents of average height.
The Importance of Mutation Analysis for Achondroplasia
Identifying the specific mutation causing achondroplasia is essential for accurate diagnosis and management of the condition. A mutation analysis test can confirm the presence of the G1138A or G1138C mutation in the FGFR3 gene, providing valuable information for families and healthcare providers. This test is particularly important for prospective parents with a history of achondroplasia in their family or for parents who have a child with the condition and are planning to have more children.
DNA Labs UAE: Achondroplasia Mutation Analysis FGFR3 Gene G1138A G1138C Test
DNA Labs UAE offers a targeted mutation analysis test for the FGFR3 gene, specifically looking for the G1138A and G1138C mutations. This test is performed using a simple blood sample, making it a non-invasive option for families seeking answers. The cost of the test is 550 AED, making it an accessible option for many who are looking for a reliable diagnosis of achondroplasia.
How to Proceed with Testing
To undergo the achondroplasia mutation analysis test at DNA Labs UAE, individuals can visit the official website and schedule an appointment. The process is straightforward and designed to provide families with the information they need as quickly and efficiently as possible.
- Visit DNA Labs UAE for more information on the test and how to schedule an appointment.
- Prepare for the test by gathering any relevant medical history and family history of achondroplasia.
- Attend the scheduled appointment for the blood sample collection.
- Receive results and guidance on the next steps from the expert team at DNA Labs UAE.
Early diagnosis of achondroplasia through mutation analysis can significantly impact the management and quality of life for individuals with this condition. DNA Labs UAE is committed to providing accurate and accessible testing services for families throughout the UAE.
