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.
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
What Your Test Results Mean:
Female carriers typically show no symptoms of alpha thalassemia X-linked intellectual disability syndrome. Female carriers are at an increased risk of having a child with alpha thalassemia X-linked intellectual disability syndrome. Risk for the current or future pregnancies is dependent on the sex of the baby.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
Alpha thalassemia X-linked intellectual disability syndrome is a condition that is characterized by intellectual disability and developmental delays in males. Most affected individuals have weak muscle tone which can delay motor skills such as sitting, standing, and walking. Many also have a significant speech delay and may never speak more than a couple of words in their lifetime. Additional signs and symptoms can include coarse facial features, anemia, small head size (microcephaly), short stature, skeletal abnormalities, and genital abnormalities or ambiguous genitalia.
The prognosis for alpha thalassemia X-linked intellectual disability syndrome is not yet defined; however, affected males that have survived to their third decade of life have been reported.
Because there is currently no cure, treatment for alpha thalassemia X-linked intellectual disability syndrome is based on symptoms. Early intervention is beneficial to ensure affected individuals can reach their full potential. Physical, occupational, and speech therapy may be considered.
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