Genetic Testing
Genetic testing for heritable diseases is now an important component of disease
maintenance, newborn screening and screening for individuals who may be disease
carriers. Knowledge of heritable genetic conditions can allow patients to be accurately
diagnosed, determine the likelihood that their children may get a disease, or alter
health habits prior to the onset of symptoms (more information). Asuragen has experience in genetic testing
via its Signature® line of research use only (RUO). Asuragen will continue
to develop and offer important diagnostic and genetic screening tests through it
CLIA laboratory.
As a part of Asuragen's commitment to diagnostic test development for genetic disorders,
we currently are developing a test for Fragile X Syndrome (FXS). Fragile X is a
family of genetic conditions, which can impact individuals and families in various
ways. These genetic conditions are related in that they are all caused by gene changes
in the same gene, FMR1.
Fragile X is the most common cause of inherited mental impairment. This
impairment can range from learning disabilities to more severe cognitive or intellectual
disabilities. FXS is also the most common known cause of autism or "autistic-like"
behaviors. Symptoms also can include characteristic physical and behavioral features
and delays in speech and language development.
Fragile X Syndrome effects:
- Approximately 1 in 3600 to 4000 males in the world are born with
the full mutation for Fragile X.
Note: The vast majority of males with the full mutation will have fragile X syndrome.
- Approximately 1 in 4000 to 6000 females in the world are born
with the full mutation for Fragile X.
Note: Approximately 50% of females with the full mutation will have some features
of fragile X syndrome.
- Approximately 1 in 800 men in the world are carriers of the Fragile
X premutation.
- Approximately 1 in 260 women in the world are carriers of the
Fragile X premutation. (Though a recent 2004 analysis, noted below, suggests that
the figure could be as high as 1 in 130.)
Centers for Disease Control and Prevention (CDC) provides more information about
the epidemiology of Fragile X Syndrome. View the report.