Fragile X

The Fragile X test analyzes the FMR1 gene to determine the number of CGG trinucleotide repeats and the gene's methylation status, allowing classification as normal, gray zone, premutation, or full mutation. Collected via an at‑home buccal swab or saliva sample, the specimen is processed by an accredited molecular genetics laboratory to deliver confidential, lab‑quality results. Early detection supports diagnosis of intellectual disability and autism spectrum features, informs family planning, and enables tailored care and referrals to specialists across Dubai and the UAE.

• FMR1 CGG repeat count
• FMR1 methylation status
• Mutation classification (normal / gray zone / premutation / full mutation)
• AGG interruption pattern

• Child with unexplained developmental delay or intellectual disability
• Signs of autism spectrum disorder or social/communication difficulties
• Known family history of Fragile X or unexplained learning disabilities
• Women with premature ovarian insufficiency or unexplained infertility
• Adults seeking carrier status information for family planning or with suspected FXTAS symptoms

• Early, definitive identification to guide clinical management and educational planning
• Carrier detection to support informed family‑planning and prenatal decision making
• Confidential at‑home sample collection with UAE‑accredited laboratory analysis
• Clear mutation classification to direct referrals to geneticists and specialists
• Recommendation for genetic counseling and follow‑up care

• At‑home buccal swab or saliva sample collected following kit instructions
• Avoid eating, drinking, smoking, or chewing gum for 30 minutes prior to collection
• Valid identification (Emirates ID or passport) and signed consent for testing and reporting
• Return sample via courier to the accredited laboratory in the UAE for processing