What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
What Your Test Results Mean:
Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of Cohen syndrome for there to be an increased chance to have a
child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
Cohen syndrome is an inherited disorder characterized by developmental delay, mild-to-moderate intellectual disability, small head size (microcephaly), and weak muscle tone. Other symptoms may include progressive nearsightedness, degeneration of the light-sensitive tissue at the back of the eye, hypermobility, neutropenia (low levels of white blood cells) with frequent infections, and distinctive facial features. Affected individuals may also present with obesity and an overly friendly disposition.
Prognosis is considered unfavorable; however, treatment can improve an individual’s quality of life. The effect on lifespan is not well-defined.
Treatment of Cohen syndrome is symptomatic as there is no cure. Addressing symptoms as soon as possible through early intervention, physical therapy, occupational therapy, and speech therapy can be beneficial.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results