How to diagnose Abetalipoproteinemia ?
Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Prenatal testing may also be available for pregnancies at increased risk if the mutations in the family have been identified.