Single-gene carrier screening
What do we mean by one fast result? One lab, one report, one simultaneous and precise result for fragile X syndrome.
AGG analysis in women who have a premutation with 55-90 CGG repeats provides a more accurate risk assessment compared to CGG testing alone.1-3 And with our unique, integrated approach, this combined CGG/AGG fragile X result is available without extending turnaround time, providing you and your patients with one timely and more refined risk estimate.
In addition to a comprehensive screening for more than 500 genetic disorders (Inheritest), we also offer single gene screening for certain disorders, such as fragile X syndrome, the most common inherited form of intellectual disability, and a common known cause of autism.4
Fragile X syndrome is found among a variety of ethnic groups,5 and can occur in families with no history of intellectual disability. Approximately one in 260 women5 and one in 800 males6 in the general population is a fragile X carrier. Females who are carriers are at increased risk to have affected children and have an increased risk for fertility problems, including early menopause. Male or female fragile X carriers may develop tremors and balance problems later in life, but male carriers are not at risk to have an affected child.