Your Alpha-1 genotype is MNull/rare. This result suggests the presence of one null or rare Alpha-1 gene mutation. “Null” mutations in the Alpha-1 gene make no alpha-1 antitrypsin (AATalpha-1 antitrypsin), and “rare” mutations make altered forms of AATalpha-1 antitrypsin that may reduce the quantity of AATalpha-1 antitrypsin in the blood. This is an important finding that may require further testing.
Alpha-1 at MUSC – Genetic Counseling
There are over 100 different rare and null mutations for Alpha-1. Examples include Plowell, QOcincinnati, and many others. If you know which rare or null mutation you have (usually from results of advanced testing), more information about that specific mutation may be available. Call the genetic counselor for details.
The University of Florida Alpha-1 Foundation DNA and Tissue Bank offers testing to clarify suspected rare/null mutations through a research program. If you think you have a rare or null mutation, but do not know which one, you may enroll in this program. 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.
Individuals with MNull/rare genotypes usually have risks for lung disease similar to MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick.. If you are confirmed to have a rare or null Alpha-1 mutation, your relatives should be offered advanced Alpha-1 testing to detect that can detect that mutation. Contact the genetic counselor with testing questions and to coordinate advanced testing for rare and null mutations. Reproductive partners of people with abnormal alpha-1 genes should also be offered testing to assess risk to children.
