Fragile X Syndrome Test Price Aed 1750  | Fragile X Test At Home in Dubai 

Fragile X Syndrome Test: Purpose and Overview

What is Fragile X Syndrome? Fragile X syndrome (FXS) is a genetic condition caused by a mutation in the FMR1 gene located on the X chromosome. It is the most common inherited cause of intellectual disability and autism, affecting both males and females, though males are typically more severely impacted. Symptoms may include developmental delays, learning disabilities, social and behavioral challenges, and physical features such as an elongated face, large ears, and flexible joints.

Purpose of Fragile X Syndrome Testing Fragile X syndrome testing aims to detect mutations in the FMR1 gene to identify individuals who have, or are carriers of, Fragile X syndrome. This testing can provide valuable information for:

1. Diagnosis: In individuals showing symptoms of intellectual disability, developmental delays, or autism, Fragile X testing can confirm or rule out the condition as the underlying cause. Early diagnosis can help in planning appropriate interventions and therapies.

2. Carrier Screening: Women who are planning to become pregnant, especially those with a family history of Fragile X or related conditions, may undergo carrier screening. This helps determine the risk of passing the condition on to their children. A woman who carries the Fragile X mutation has a 50% chance of passing the altered gene to each child.

3. Prenatal Testing: Pregnant women can choose to have prenatal testing if they are known carriers of the Fragile X mutation. This testing can determine if the fetus has inherited the mutation, allowing parents to make informed decisions about the pregnancy and prepare for any special needs the child may have.

4. Family Planning and Genetic Counseling: Families with a history of Fragile X syndrome may benefit from genetic counseling to understand the risks, implications, and options available, including testing for other family members who might be carriers or affected by the condition.

How is the Test Conducted? The test for Fragile X syndrome typically involves a blood sample, though it can also be done using a cheek swab or other tissue samples. The sample is analyzed in a laboratory to detect the presence and size of the CGG trinucleotide repeat expansion in the FMR1 gene. Individuals with a normal number of repeats do not have Fragile X syndrome, while those with an increased number of repeats may either be carriers or affected by the condition.

Understanding the Results

• Normal: FMR1 gene has up to 44 CGG repeats.
• Intermediate/Gray Zone: 45-54 CGG repeats, unlikely to cause Fragile X syndrome but may have some implications.
• Premutation: 55-200 CGG repeats, carriers of this mutation may not show symptoms but can pass the mutation to offspring, who may develop the syndrome.
• Full Mutation: Over 200 CGG repeats, individuals with a full mutation are affected by Fragile X syndrome and may exhibit symptoms.

Conclusion Fragile X syndrome testing plays a crucial role in diagnosing the condition, assessing the risk of passing it on to children, and guiding family planning decisions. Early detection and intervention can significantly improve the quality of life for those affected by Fragile X syndrome.