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 would both have to be carriers of pycnodysostosis 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.
Pycnodysostosis is an inherited lysosomal disorder caused by deficient levels of the lysosomal enzyme cathepsin K. Decreased cathepsin K leads to multiple bones issues in the individual such as short stature and dense and brittle bones causing the individual to easily suffer from fractures. Delayed or abnormal development of the teeth is also seen with this disorder.
Prognosis for pycnodysostosis is generally considered to be good. Lifespan is typically not affected by pycnodysostosis with proper treatment.
Treatment for pycnodysostosis involves managing the symptoms along with good dental hygiene. Growth hormones can help to improve the height of the individual, as well as surgery to correct deformities in the face and jaw.
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