Your Alpha-1 genotype is Null/Rare. This result suggests that you have null or rare mutations in both copies of your Alpha-1 gene. This is an important finding that requires further testing.Alpha-1 at MUSC – Genetic Counseling
We recommend further testing through the University of Florida Alpha-1 Foundation DNA and Tissue Bank. If you choose to have further testing performed, you will be sent a kit with a consent form, empty blood tubes and instructions for collecting a blood sample. You will receive results of this test from the DNA and Tissue Bank. To request this more comprehensive blood tube test, contact the DNA and Tissue Bank at their toll free number: 1-855-476-1227, Option 1 or 352-273-6339.
Individuals with two Null/Rare mutations have a rare form of AATD and are at increased risk for Alpha-1 lung disease, and more rarely, liver disease. People with severe deficiency have risks for lung disease similar to ZZ individuals. We recommend that you follow-up with a physician to discuss personalized screening or management recommendations. A list of Alpha-1 specialists can be found at www.alpha1.org.
Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to also have abnormal alpha-1 genes. If you are confirmed to have a rare or null Alpha-1 mutation, your relatives should be offered advanced Alpha-1 testing to detect such alleles. They should not be tested through the ACT Study, which reliably detects the F, I, S and Z mutations only. If your family members have been tested previously, they may have received an inaccurate result due to a Null/rare mutation being missed. Reproductive partners of people with abnormal alpha-1 genes should also be offered testing to assess risk to children.We have made and will continue to make every effort to provide you with any information you desire about AATD. Should you have questions about your genotype and what it means for you and your family, we recommend you contact the Alpha-1 Foundation Genetic Counseling Program to speak with the genetic counselor. She can be contacted at 1-800-785-3177 to discuss any aspects of AATD.