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.
Dyskeratosis Congenita (autosomal)
What Your Test Results Mean:
Test results indicate that you are a carrier of dyskeratosis congenita, autosomal recessive. Carriers of dyskeratosis congenita typically do not develop symptoms of the disease; however, some carriers may develop symptoms that appear later in life and carriers do have an increased risk of having a child with the disorder. You and your partner or donor would both have to be carriers of dyskeratosis congenita 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.
Dyskeratosis congenita, autosomal recessive belongs to a group of inherited conditions known as dyskeratosis congenita that affect several different parts of the body. People with dyskeratosis congenita can have bone marrow failure with recurrent infections, scarred lungs, short stature, developmental delay, dental abnormalities, osteoporosis, liver disease, skin pigment differences, abnormal nails, or thickened, white patches inside the mouth. People with dyskeratosis congenita also have a higher chance of developing certain types of cancer. The severity of symptoms can vary widely, with some people having just a few of these symptoms and others having many.
The prognosis is variable and depends on the severity of symptoms. The condition is associated with shorter life expectancy for more severe cases, but many people live to at least age 60.
There is no cure for dyskeratosis congenita. Symptoms are treated as they present with standard treatments. Bone marrow transplantation, if successful, can be curative for bone marrow failure and blood cancers.
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