Fragile X Carrier Testing

This XSense® blood test is used in the determination of Fragile X status (affected or carrier). Fragile X Syndrome (FXS) is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.

This blood test is recommended when an affected or carrier individual has already been identified in the family.

Fragile X syndrome is the most common inherited mental retardation syndrome, affecting approximately 1 in 4,000 males and approximately 1 in 8,000 females. The test is used to detect the presence of expanded alleles in the FMR1 gene and to distinguish normal homozygous females from full mutation carriers.

Who Is Suitable for Fragile X Testing:

• Individuals with a family history of FXS or undiagnosed intellectual disability, including those seeking reproductive counseling

• Women with a personal history of primary ovarian insufficiency

• Symptomatic children and adults