MM

MM is the normal genotype.

People with the MM genotype do not have alpha-1 antitrypsin deficiency, and do not have increased risks related to this condition.

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 our genetic counselor. She can be contacted at 1-800-785-3177 to discuss any aspects of AATD.
MS

People with the MS genotype do not have alpha-1 antitrypsin deficiency, but are genetic carriers of the S mutation. There is no known increased risk for lung or liver disease associated with the MS genotype. The S mutation is known to cause a moderate reduction in the quantity of alpha-1 antitrypsin (AAT), and can contribute to AATD in people who have two AATD mutations (e.g. SZ).

Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to also have abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of your result and the availability of testing. Testing for relatives must look for the S mutation to ensure accurate results. Reproductive partners of people with abnormal alpha-1 genes should 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.
MZ

People with the MZ genotype do not have severe AATD but are genetic carriers of the Z mutation. The Z mutation is a deficiency allele (version of the gene) that reduces the quantity of alpha-1 antitrypsin (AAT) in the blood, and causes AATD in people with two mutations (e.g. ZZ, SZ). The MZ genotype is not associated with an increased risk for lung disease in nonsmokers. Higher risk is seen in MZ individuals who smoke. A slightly increased risk for liver disease has been seen in MZ populations.

Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to also have abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of your result and the availability of testing. Reproductive partners of people with abnormal alpha-1 genes should 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.
MF

People with the MF genotype are genetic carriers of the F mutation. The F mutation produces a dysfunctional alpha-1 protein product, and contributes to AATD in people who have two mutations (e.g. FF, FZ). The M allele is normal. Based on a limited amount of literature, people with the MF genotype likely have lung disease risks similar to people with the MZ genotype. The MZ genotype is not associated with an increased risk for lung disease in nonsmokers. Higher risk is seen in MZ individuals who smoke. The MF genotype is not associated with an increased risk for liver disease.

Because Alpha-1 is genetic, your relatives are at increased risk to also have the F mutation. We encourage you to make your family members aware of your result and the availability of testing. In order for your relatives to have accurate testing, the test must look for the F mutation. AAT level testing is not accurate to detect Alpha-1 involving the F mutation. Reproductive partners of people with abnormal alpha-1 genes should 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.
MI

People with the MI genotype are genetic carriers of the I mutation. The I mutation results in a reduced quantity of Alpha-1 protein in the blood and is believed to be risk-raising when combined with another Alpha-1 mutation. The M allele is normal. The MI genotype has not been associated with an increased risk for lung or liver disease. More information about genotypes involving the I mutation may be known in the future.

Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to also have abnormal alpha-1 genes. We encourage you to make your family members aware of the condition in your family and the availability of testing. In order for your relatives to have accurate testing the test must look for the I mutation. 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.
SI

Your Alpha-1 genotype is SI. This is a rare Alpha-1 genotype. While you do not have the most severe form of AATD, based on a limited amount of literature, the SI genotype may be associated with an increased risk of developing lung disease. We would stress that not all individuals with this genotype develop lung disease. An increased risk for liver disease has not been associated with this genotype. The S mutation causes a moderate reduction in the quantity of alpha-1 antitrypsin (AAT) in the blood and may be risk-raising when combined with a second AATD mutation. The I mutation results in a reduced quantity of Alpha-1 protein in the blood and may be risk-raising when combined with another Alpha-1 mutation. This result should be interpreted in the context of AAT level and clinical symptoms. More information about this genotype may be known in the future. 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 have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing. Testing for relatives must look for the S and I mutations to ensure accurate results.

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.
II

Your Alpha-1 genotype is II. This means that you have two copies of the I mutation in your Alpha-1 genes. The I mutation results in a reduced quantity of Alpha-1 protein in the blood and is believed to be risk-raising when combined with another Alpha-1 mutation. The II genotype, based on a limited amount of literature, is thought to be associated with an increased risk for lung disease. We would stress that not everyone with this genotype develops symptoms and exact risks are not known. This genotype has not been associated with an increased risk for liver disease. This result should be interpreted in the context of AAT level and clinical symptoms. More information about genotypes involving the I mutation may be known in the future. 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 have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing. Testing for relatives must evaluate the I mutation to ensure accurate results.

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.
SS

Your Alpha-1 genotype is SS. People with this genotype have approximately 60% of the normal amount of alpha-1 antitrypsin (AAT) in the blood. People with the SS genotype are believed to have a small increased risk for lung disease, similar to genotype MZ carriers (who have similar AAT levels).

Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing. Testing for relatives must evaluate the S mutation to ensure accurate results.

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.
SZ

Your Alpha-1 genotype is SZ. This means that you have AATD. AATD is a genetic condition that raises the risk for the development of chronic obstructive pulmonary disease (COPD) and, in some cases, liver disease. The S mutation causes a moderate reduction in the quantity of alpha-1 antitrypsin (AAT) in the blood and is risk-raising when combined with a second AATD mutation. The Z mutation is a deficiency allele (version of the gene) that traps AAT in the liver and reduces the quantity in the blood. Risks for lung disease, and to a lower extent for liver disease, are increased by this genotype. However, we would stress that not all people with this genotype develop lung or liver disease. We recommend that you follow-up with a physician familiar with Alpha-1 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 have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing. Testing for relatives must evaluate the S and Z mutations to ensure accurate results.

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.
FS

Your Alpha-1 genotype is FS. This means that you have a rare form of AATD. AATD is a genetic condition that raises the risk for the development of chronic obstructive pulmonary disease (COPD) and, in some cases, liver disease. The F mutation produces a dysfunctional alpha-1 protein product. The S mutation causes a moderate reduction in the quantity of alpha-1 antitrypsin (AAT) in the blood and is risk-raising when combined with a second AATD mutation. The FS genotype, based on a limited amount of literature, may be associated with an increased risk of developing lung disease. We would stress that not everyone with this genotype develops lung disease and exact risks are not known. The FS genotype has not been associated with an increased risk for liver disease. We recommend that you follow-up with a physician familiar with Alpha-1 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. We encourage you to make your family members aware of the condition in your family and the availability of testing. In order for your relatives to have accurate testing, the test must look for both the F and S mutations. AAT level testing is not accurate to detect Alpha-1 involving the F mutation. 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.
FZ

Your Alpha-1 genotype is FZ. This means that you have a rare form of AATD. AATD is a genetic condition that raises the risk for the development of chronic obstructive pulmonary disease (COPD) and, in some cases, liver disease. The F mutation produces a dysfunctional alpha-1 protein product. The Z mutation produces an abnormal protein product that gets trapped in the liver and reduces the level of Alpha-1 protein in the blood. The FZ genotype results in an increased risk for lung disease. Risk for liver disease is not known to be increased beyond that of an MZ carrier. We recommend that you follow-up with a physician familiar with Alpha-1 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 AATD or carry abnormal alpha-1 genes. We encourage you to make your family members aware of the condition in your family and the availability of testing. In order for your relatives to have accurate testing, the test must look for both the F and Z mutations. AAT level testing is not accurate to detect Alpha-1 involving the F mutation. 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.
ZI

Your Alpha-1 genotype is ZI. This means that you have a rare form of AATD. AATD is a genetic condition that raises the risk for the development of chronic obstructive pulmonary disease (COPD) and, in some cases, liver disease. The Z mutation produces an abnormal protein product that gets trapped in the liver and reduces the level of Alpha-1 protein in the blood. The I mutation results in a reduced quantity of Alpha-1 protein in the blood and is believed to be risk-raising when combined with another Alpha-1 mutation. The ZI genotype, based on a limited amount of literature, results in an increased risk for lung disease. Risk for liver disease is not known to be increased beyond that of an MZ carrier. More information about the ZI genotype may be known in the future. We recommend that you follow-up with a physician familiar with Alpha-1 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 AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing. In order for your relatives to have accurate testing the test must look for both the Z and I mutations. Reproductive partners of people with abnormal alpha-1 genes should 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.
FI

Your Alpha-1 genotype is FI. This means that you have a rare form of AATD. AATD is a genetic condition that raises the risk, to a varying degree, for the development of chronic obstructive pulmonary disease (COPD) and, in some cases, liver disease. The F mutation produces a dysfunctional alpha-1 protein product. The I mutation results in a reduced quantity of Alpha-1 protein in the blood and is believed to be risk-raising when combined with another Alpha-1 mutation. The FI genotype, based on a limited amount of literature, may be associated with an increased risk of developing lung disease. We would stress that not all individuals with this genotype develop lung disease and exact risks are not known. This genotype is not known to raise risks for liver disease. 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 AATD or carry abnormal alpha-1 genes. We encourage you to make your family members aware of the condition in your family and the availability of testing. In order for your relatives to have accurate testing the test must look for both the F and I mutations. AAT level testing is not accurate to detect Alpha-1 involving the F mutation. 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.
FF

Your Alpha-1 genotype is FF. This means that you have two copies of the F mutation in your Alpha-1 genes. This is a rare form of alpha-1 antitrypsin deficiency. The F mutation produces a dysfunctional alpha-1 protein product. Although the alpha-1 quantity is normal or near-normal, it does not function normally to protect the lungs. Based on a limited amount of literature, people with the FF genotype are at increased risk for lung disease. This genotype has not been associated with an increased risk for liver disease. More information about genotypes involving the F mutation may be known in the future. We recommend that you follow-up with a physician familiar with Alpha-1 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 have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing. Testing for relatives must evaluate the F mutation to ensure accurate results. AAT level testing is not accurate to detect Alpha-1 involving the F mutation.

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.
ZZ

Your Alpha-1 genotype is ZZ. This means that you have AATD. AATD is a genetic condition that raises the risk for the development of chronic obstructive pulmonary disease (COPD) and, in some cases, liver disease. The Z mutation is a deficiency allele (version of the gene) that causes alpha-1 antitrypsin (AAT) to be trapped in the liver and reduces the quantity of alpha-1 antitrypsin in the blood. People with two copies of the Z mutation are at increased risk for both lung and liver disease. We recommend that you follow-up with a physician familiar with Alpha-1 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 AATD or carry abnormal alpha-1 genes. We encourage you to make your family members aware of the condition in your family and the availability of testing. 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.
ZNull/rare

Your Alpha-1 genotype is ZNull/rare. This result means that you have, or are suspected to have, a rare form of AATD. This is an important finding that may require further testing. The Z mutation is a deficiency allele (version of the gene) that reduces the quantity of alpha-1 antitrypsin (AAT) in the blood. The Z mutation is risk-raising for lung and liver disease, and the degree of risk depends on your other Alpha-1 gene and your AAT level. Your other Alpha-1 gene has, or is suspected to have, a null or rare mutation. “Null” mutations in the Alpha-1 gene make no alpha-1 antitrypsin (AAT), and “rare” mutations make altered forms of AAT that may reduce the quantity of AAT in the blood.

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 confirmed ZNull/rare genotypes have AATD and increased risks for Alpha-1 lung disease similar to ZZ individuals. Some, but not all, individuals with these genotypes have increased risks for liver disease. 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.

Relatives of someone with the Znull/rare genotype are at increased risk to also have abnormal alpha-1 genes and should be offered testing. 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.

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.
SNull/rare

Your Alpha-1 genotype is SNull/rare. This result suggests that you have a rare form of AATD. This is an important finding that may require further testing. The S mutation is known to cause a moderate reduction in the quantity of alpha-1 antitrypsin (AAT) in the blood and is risk-raising when combined with a second AATD mutation. The degree of risk depends on your other Alpha-1 gene and your AAT level. “Null” mutations in the Alpha-1 gene make no alpha-1 antitrypsin (AAT), and “rare” mutations make altered forms of AAT that may reduce the quantity of AAT in the blood.

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 confirmed SNull/rare genotypes have AATD and increased risks for Alpha-1 lung disease. Wewould stress that not all individuals with such genotypes develop lung disease. Most individuals with these genotypes do not have increased risks for liver disease. 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.

Relatives of someone with the Snull/rare genotype are at increased risk to also have abnormal alpha-1 genes and should be offered testing. 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.

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.
Null/rare

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.

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.
Null/Null

Your Alpha-1 genotype is Null/Null or null/rare. This result suggests the presence of two null or rare mutations for Alpha-1. “Null” mutations in the Alpha-1 gene make no alpha-1 antitrypsin (AAT), and “rare” mutations make altered forms of AAT that may reduce the quantity of AAT in the blood. This is an important finding that may require further testing.

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 mutations you have (usually from results of advanced testing), more information about your specific results 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 rare or null mutations, but do not know which ones, 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.

People 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.

If you are confirmed to have rare or null Alpha-1 mutations, your relatives should be offered advanced Alpha-1 testing to detect that can detect those mutations. 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.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.
M Null/rare

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 (AAT), and “rare” mutations make altered forms of AAT that may reduce the quantity of AAT in the blood. This is an important finding that may require further testing.

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 carriers. 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.

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.