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:
Test results indicate that you are a carrier of abetalipoproteinemia. Carriers are not expected to show symptoms of abetalipoproteinemia. You and your partner would both have to be carriers of abetalipoproteinemia 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.
Abetalipoproteinemia is an inherited condition that affects the ability of an individual to absorb dietary fats, cholesterol, and fat-soluble vitamins. Certain levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body. However, individuals affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blood. Signs and symptoms of abetalipoproteinemia first show around infancy. These symptoms can include a failure to gain weight and grow at the expected rate, diarrhea, abnormally star-shaped red blood cells (acanthocytosis), and fatty, foul-smelling stools. Additional symptoms may occur later in childhood such as ataxia, poor muscle coordination, and an eye disorder called retinitis pigmentosa which could cause blindness by the fourth decade of life. Adults with abetalipoproteinemia may also have difficulties with balance and walking.
Signs and symptoms for abetalipoproteinemia can vary. As such, prognosis can depend on the severity of brain and nervous system involvement. Early diagnosis and treatment can potentially improve quality of life and reduce neurological and ophthalmological symptoms.
A low-fat diet and administration of fat-soluble vitamins may be used to manage symptoms, but there is no cure for abetalipoproteinemia.
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