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.
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
What Your Test Results Mean:
Test results indicate that you are a carrier of cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders. Carriers are not expected to show symptoms. You and your partner would both have to be carriers of cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders 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.
Cartilage-hair hypoplasia is an inherited condition that affects the skeletal and immune systems. Symptoms include short-limbed dwarfism, light-colored and sparse hair, anemia, and immune problems that can lead to multiple infections. Affected individuals may also have light-colored skin (hypopigmentation), malformed nails, and dental abnormalities. They are also at an increased risk of developing cancers such as skin cancer, leukemia, and lymphoma. The extent of immunodeficiency can vary from mild to severe in individuals.
Prognosis is dependent on the presence and severity of immunodeficiency. Many individuals can live a normal lifespan; however, this ultimately depends on the severity of immunodeficiency and avoidance of opportunistic infections, particularly in childhood.
Management is focused on protecting against infection by means of vaccinations and managing infections when they occur. Bone marrow transplant has been used successfully to manage individuals with severe immunodeficiency. Growth hormones can be considered for some individuals.
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