ABOUT THE TEST The HerediT® Universal Carrier Screening test is a laboratory-developed test that was validated under Federal CLIA laboratory guidelines. The HerediT Universal test is performed exclusively by Reprogenetics, a CLIA-certified laboratory, and available through contract with Sequenom Laboratories. The test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although laboratorydeveloped tests to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test. Sequenom Laboratories and Reprogenetics are certified to perform high complexity clinical laboratory testing. INFORMATION THAT EMPOWERS At Sequenom Laboratories, we believe science can be revealing, knowledge is the key to planning, and information is empowering. No test is perfect. While results of this testing are highly accurate, a negative result significantly reduces but does not eliminate the chance of being a carrier. The results of this testing, including the benefits and limitations, should be discussed with your health care provider. A patient with a positive test result should be referred for genetic counseling and further evaluation. The patient’s reproductive partner and at-risk family members may also be tested. REVEALING THE UNKNOWN The HerediT® Universal tests are performed exclusively by Reprogenetics, a CLIA certified laboratory, and available through contract with Sequenom Laboratories. Bioinformatics is performed by Recombine. Sequenom Laboratories 3595 John Hopkins Court San Diego, CA 92121 [email protected] sequenom.com/laboratories Toll Free (within the US) at Comprehensive genetic carrier screening 877.821.7266 Sequenom®, Sequenom Laboratories™, and HerediT® are trademarks of Sequenom, Inc. and used with permission by Sequenom Center for Molecular Medicine, LLC, dba Sequenom Laboratories. ©2015 Sequenom Laboratories. All rights reserved. 31-20501R1.0 0315 ABOUT THE TEST The HerediT® Universal Carrier Screening test is a laboratory-developed test that was validated under Federal CLIA laboratory guidelines. The HerediT Universal test is performed exclusively by Reprogenetics, a CLIA-certified laboratory, and available through contract with Sequenom Laboratories. The test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although laboratorydeveloped tests to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test. Sequenom Laboratories and Reprogenetics are certified to perform high complexity clinical laboratory testing. INFORMATION THAT EMPOWERS At Sequenom Laboratories, we believe science can be revealing, knowledge is the key to planning, and information is empowering. No test is perfect. While results of this testing are highly accurate, a negative result significantly reduces but does not eliminate the chance of being a carrier. The results of this testing, including the benefits and limitations, should be discussed with your health care provider. A patient with a positive test result should be referred for genetic counseling and further evaluation. The patient’s reproductive partner and at-risk family members may also be tested. REVEALING THE UNKNOWN The HerediT® Universal tests are performed exclusively by Reprogenetics, a CLIA certified laboratory, and available through contract with Sequenom Laboratories. Bioinformatics is performed by Recombine. Sequenom Laboratories 3595 John Hopkins Court San Diego, CA 92121 [email protected] sequenom.com/laboratories Toll Free (within the US) at Comprehensive genetic carrier screening 877.821.7266 Sequenom®, Sequenom Laboratories™, and HerediT® are trademarks of Sequenom, Inc. and used with permission by Sequenom Center for Molecular Medicine, LLC, dba Sequenom Laboratories. ©2015 Sequenom Laboratories. All rights reserved. 31-20501R1.0 0315 ABOUT THE TEST The HerediT® Universal Carrier Screening test is a laboratory-developed test that was validated under Federal CLIA laboratory guidelines. The HerediT Universal test is performed exclusively by Reprogenetics, a CLIA-certified laboratory, and available through contract with Sequenom Laboratories. The test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although laboratorydeveloped tests to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test. Sequenom Laboratories and Reprogenetics are certified to perform high complexity clinical laboratory testing. INFORMATION THAT EMPOWERS At Sequenom Laboratories, we believe science can be revealing, knowledge is the key to planning, and information is empowering. No test is perfect. While results of this testing are highly accurate, a negative result significantly reduces but does not eliminate the chance of being a carrier. The results of this testing, including the benefits and limitations, should be discussed with your health care provider. A patient with a positive test result should be referred for genetic counseling and further evaluation. The patient’s reproductive partner and at-risk family members may also be tested. REVEALING THE UNKNOWN The HerediT® Universal tests are performed exclusively by Reprogenetics, a CLIA certified laboratory, and available through contract with Sequenom Laboratories. Bioinformatics is performed by Recombine. Sequenom Laboratories 3595 John Hopkins Court San Diego, CA 92121 [email protected] sequenom.com/laboratories Toll Free (within the US) at Comprehensive genetic carrier screening 877.821.7266 Sequenom®, Sequenom Laboratories™, and HerediT® are trademarks of Sequenom, Inc. and used with permission by Sequenom Center for Molecular Medicine, LLC, dba Sequenom Laboratories. ©2015 Sequenom Laboratories. All rights reserved. 31-20501R1.0 0315 SHOULD I CONSIDER CARRIER SCREENING? WHAT IS A CARRIER? A carrier of a genetic disorder has one of two copies of a gene that is not working properly. This is also known as a gene mutation. A person can be a carrier of a genetic disorder, even if no one in the family has been affected. The likelihood of being a carrier can be based on your ethnic background or family history. However, some disorders like cystic fibrosis (CF) or spinal muscular atrophy (SMA) are more common and carrier screening can be offered regardless of background. Genetic disorders can be inherited in different ways. Some genetic conditions are the result of recessive inheritance. In this inheritance pattern, only a child with two gene mutations will be affected. If two people are carriers of the same genetic disorder, the risk of giving birth to a child with symptoms will be 25%. Father In other conditions, a gene mutation is linked to the X chromosome, typically causing symptoms in males. In this inheritance pattern, women are more often unaware of their carrier status, and can have up to a 50% risk of passing the mutation to their sons. • Are considering having a child or are already pregnant • Have a family history of a genetic disorder • Are at increased risk for a specific condition based on ethnicity Father Mother (Unaffected) (Carrier) X Y WHAT HAPPENS IF I’M A CARRIER? If you are identified as a carrier of a genetic disorder, it does not mean that you have the condition or will become ill. It does mean that your reproductive partner should be offered testing for the same disorder. If both members of a couple are carriers for the same disorder, your doctor, genetic counselor or other health care provider will discuss reproductive and prenatal testing options with you. Genetic counseling can help you better understand these risks and the test results. X X Mother (carrier) (carrier) X Y X X 50% 25% Child Child Child Child (unaffected) (carrier) (carrier) (affected) Normal Gene Gene Mutation RECESSIVE INHERITANCE Quality answers about familial risk Appropriate follow-up testing if risks are discovered X X X Y Son Daughter Daughter Son (unaffected) (unaffected) (carrier) (affected) Normal Gene 25% Carrier screening can help you and your partner learn about the chance of having a child with a genetic disorder even before getting pregnant. Carrier screening for certain conditions is recommended for consideration by all pregnant couples. Screening may be helpful if you: Gene Mutation X-LINKED INHERITANCE WHAT IS GENETIC CARRIER SCREENING AND WHY IS IT IMPORTANT? Genetic carrier screening is one of the many tests that you or your physician can request before or during a pregnancy to help predict your chances of having a child with a genetic disorder. Even if you are healthy, have no family history of a specific condition, or have previous healthy children, you may be a carrier of a genetic condition. DEEPEN YOUR UNDERSTANDING WITH PERSONALIZED GENETIC COUNSELING Genetic counselors are experts trained in discussing genetic test results and familial risks. They can be an important resource should your results determine you are a carrier. All patients with a positive test result are offered the option of a complimentary, comprehensive genetic counseling session. During the session, a genetic counselor can help you understand your results in the context of your medical and family history, discuss potential implications, and review potential next steps. WILL MY INSURANCE COVER THIS TEST? Inquire with our billing team or your insurance provider to see if the HerediT Universal test is a covered benefit under your policy. Your financial obligation will be determined by the terms of your plan. WHAT HAPPENS IF I’M NOT A CARRIER? A negative or low-risk carrier screening test result significantly reduces your chances of carrying a mutation for a genetic disorder; however, it does not reduce your risk to zero. No carrier screening test can detect all mutations that may be present in carriers. Typically, with a negative result, the residual risks are significantly reduced such that you may feel comfortable not having further testing. HEREDIT® UNIVERSAL CARRIER SCREENING The HerediT Universal Carrier Screening test was developed to be the most customizable and comprehensive test, with over 250 genetic disorders available for screening. Your health care provider can discuss with you the test choices that may be relevant for you. The clearly defined results provide you and your health care provider with the information you need to identify potential hereditary risks. Identifying possible risks will provide you with vital knowledge to prepare and make informed decisions during your family planning process. Ask your doctor if the HerediT Universal Carrier Screening test is right for you. Following a positive carrier screen result, you may want to review your results with a genetic counselor to better understand what they mean to you. Call (877) 389-0668 or visit sequenom.youcanbook.me to schedule a complimentary appointment with an expert. SHOULD I CONSIDER CARRIER SCREENING? WHAT IS A CARRIER? A carrier of a genetic disorder has one of two copies of a gene that is not working properly. This is also known as a gene mutation. A person can be a carrier of a genetic disorder, even if no one in the family has been affected. The likelihood of being a carrier can be based on your ethnic background or family history. However, some disorders like cystic fibrosis (CF) or spinal muscular atrophy (SMA) are more common and carrier screening can be offered regardless of background. Genetic disorders can be inherited in different ways. Some genetic conditions are the result of recessive inheritance. In this inheritance pattern, only a child with two gene mutations will be affected. If two people are carriers of the same genetic disorder, the risk of giving birth to a child with symptoms will be 25%. Father In other conditions, a gene mutation is linked to the X chromosome, typically causing symptoms in males. In this inheritance pattern, women are more often unaware of their carrier status, and can have up to a 50% risk of passing the mutation to their sons. • Are considering having a child or are already pregnant • Have a family history of a genetic disorder • Are at increased risk for a specific condition based on ethnicity Father Mother (Unaffected) (Carrier) X Y WHAT HAPPENS IF I’M A CARRIER? If you are identified as a carrier of a genetic disorder, it does not mean that you have the condition or will become ill. It does mean that your reproductive partner should be offered testing for the same disorder. If both members of a couple are carriers for the same disorder, your doctor, genetic counselor or other health care provider will discuss reproductive and prenatal testing options with you. Genetic counseling can help you better understand these risks and the test results. X X Mother (carrier) (carrier) X Y X X 50% 25% Child Child Child Child (unaffected) (carrier) (carrier) (affected) Normal Gene Gene Mutation RECESSIVE INHERITANCE Quality answers about familial risk Appropriate follow-up testing if risks are discovered X X X Y Son Daughter Daughter Son (unaffected) (unaffected) (carrier) (affected) Normal Gene 25% Carrier screening can help you and your partner learn about the chance of having a child with a genetic disorder even before getting pregnant. Carrier screening for certain conditions is recommended for consideration by all pregnant couples. Screening may be helpful if you: Gene Mutation X-LINKED INHERITANCE WHAT IS GENETIC CARRIER SCREENING AND WHY IS IT IMPORTANT? Genetic carrier screening is one of the many tests that you or your physician can request before or during a pregnancy to help predict your chances of having a child with a genetic disorder. Even if you are healthy, have no family history of a specific condition, or have previous healthy children, you may be a carrier of a genetic condition. DEEPEN YOUR UNDERSTANDING WITH PERSONALIZED GENETIC COUNSELING Genetic counselors are experts trained in discussing genetic test results and familial risks. They can be an important resource should your results determine you are a carrier. All patients with a positive test result are offered the option of a complimentary, comprehensive genetic counseling session. During the session, a genetic counselor can help you understand your results in the context of your medical and family history, discuss potential implications, and review potential next steps. WILL MY INSURANCE COVER THIS TEST? Inquire with our billing team or your insurance provider to see if the HerediT Universal test is a covered benefit under your policy. Your financial obligation will be determined by the terms of your plan. WHAT HAPPENS IF I’M NOT A CARRIER? A negative or low-risk carrier screening test result significantly reduces your chances of carrying a mutation for a genetic disorder; however, it does not reduce your risk to zero. No carrier screening test can detect all mutations that may be present in carriers. Typically, with a negative result, the residual risks are significantly reduced such that you may feel comfortable not having further testing. HEREDIT® UNIVERSAL CARRIER SCREENING The HerediT Universal Carrier Screening test was developed to be the most customizable and comprehensive test, with over 250 genetic disorders available for screening. Your health care provider can discuss with you the test choices that may be relevant for you. The clearly defined results provide you and your health care provider with the information you need to identify potential hereditary risks. Identifying possible risks will provide you with vital knowledge to prepare and make informed decisions during your family planning process. Ask your doctor if the HerediT Universal Carrier Screening test is right for you. Following a positive carrier screen result, you may want to review your results with a genetic counselor to better understand what they mean to you. Call (877) 389-0668 or visit sequenom.youcanbook.me to schedule a complimentary appointment with an expert. SHOULD I CONSIDER CARRIER SCREENING? WHAT IS A CARRIER? A carrier of a genetic disorder has one of two copies of a gene that is not working properly. This is also known as a gene mutation. A person can be a carrier of a genetic disorder, even if no one in the family has been affected. The likelihood of being a carrier can be based on your ethnic background or family history. However, some disorders like cystic fibrosis (CF) or spinal muscular atrophy (SMA) are more common and carrier screening can be offered regardless of background. Genetic disorders can be inherited in different ways. Some genetic conditions are the result of recessive inheritance. In this inheritance pattern, only a child with two gene mutations will be affected. If two people are carriers of the same genetic disorder, the risk of giving birth to a child with symptoms will be 25%. Father In other conditions, a gene mutation is linked to the X chromosome, typically causing symptoms in males. In this inheritance pattern, women are more often unaware of their carrier status, and can have up to a 50% risk of passing the mutation to their sons. • Are considering having a child or are already pregnant • Have a family history of a genetic disorder • Are at increased risk for a specific condition based on ethnicity Father Mother (Unaffected) (Carrier) X Y WHAT HAPPENS IF I’M A CARRIER? If you are identified as a carrier of a genetic disorder, it does not mean that you have the condition or will become ill. It does mean that your reproductive partner should be offered testing for the same disorder. If both members of a couple are carriers for the same disorder, your doctor, genetic counselor or other health care provider will discuss reproductive and prenatal testing options with you. Genetic counseling can help you better understand these risks and the test results. X X Mother (carrier) (carrier) X Y X X 50% 25% Child Child Child Child (unaffected) (carrier) (carrier) (affected) Normal Gene Gene Mutation RECESSIVE INHERITANCE Quality answers about familial risk Appropriate follow-up testing if risks are discovered X X X Y Son Daughter Daughter Son (unaffected) (unaffected) (carrier) (affected) Normal Gene 25% Carrier screening can help you and your partner learn about the chance of having a child with a genetic disorder even before getting pregnant. Carrier screening for certain conditions is recommended for consideration by all pregnant couples. Screening may be helpful if you: Gene Mutation X-LINKED INHERITANCE WHAT IS GENETIC CARRIER SCREENING AND WHY IS IT IMPORTANT? Genetic carrier screening is one of the many tests that you or your physician can request before or during a pregnancy to help predict your chances of having a child with a genetic disorder. Even if you are healthy, have no family history of a specific condition, or have previous healthy children, you may be a carrier of a genetic condition. DEEPEN YOUR UNDERSTANDING WITH PERSONALIZED GENETIC COUNSELING Genetic counselors are experts trained in discussing genetic test results and familial risks. They can be an important resource should your results determine you are a carrier. All patients with a positive test result are offered the option of a complimentary, comprehensive genetic counseling session. During the session, a genetic counselor can help you understand your results in the context of your medical and family history, discuss potential implications, and review potential next steps. WILL MY INSURANCE COVER THIS TEST? Inquire with our billing team or your insurance provider to see if the HerediT Universal test is a covered benefit under your policy. Your financial obligation will be determined by the terms of your plan. WHAT HAPPENS IF I’M NOT A CARRIER? A negative or low-risk carrier screening test result significantly reduces your chances of carrying a mutation for a genetic disorder; however, it does not reduce your risk to zero. No carrier screening test can detect all mutations that may be present in carriers. Typically, with a negative result, the residual risks are significantly reduced such that you may feel comfortable not having further testing. HEREDIT® UNIVERSAL CARRIER SCREENING The HerediT Universal Carrier Screening test was developed to be the most customizable and comprehensive test, with over 250 genetic disorders available for screening. Your health care provider can discuss with you the test choices that may be relevant for you. The clearly defined results provide you and your health care provider with the information you need to identify potential hereditary risks. Identifying possible risks will provide you with vital knowledge to prepare and make informed decisions during your family planning process. Ask your doctor if the HerediT Universal Carrier Screening test is right for you. Following a positive carrier screen result, you may want to review your results with a genetic counselor to better understand what they mean to you. Call (877) 389-0668 or visit sequenom.youcanbook.me to schedule a complimentary appointment with an expert. SHOULD I CONSIDER CARRIER SCREENING? WHAT IS A CARRIER? A carrier of a genetic disorder has one of two copies of a gene that is not working properly. This is also known as a gene mutation. A person can be a carrier of a genetic disorder, even if no one in the family has been affected. The likelihood of being a carrier can be based on your ethnic background or family history. However, some disorders like cystic fibrosis (CF) or spinal muscular atrophy (SMA) are more common and carrier screening can be offered regardless of background. Genetic disorders can be inherited in different ways. Some genetic conditions are the result of recessive inheritance. In this inheritance pattern, only a child with two gene mutations will be affected. If two people are carriers of the same genetic disorder, the risk of giving birth to a child with symptoms will be 25%. Father In other conditions, a gene mutation is linked to the X chromosome, typically causing symptoms in males. In this inheritance pattern, women are more often unaware of their carrier status, and can have up to a 50% risk of passing the mutation to their sons. • Are considering having a child or are already pregnant • Have a family history of a genetic disorder • Are at increased risk for a specific condition based on ethnicity Father Mother (Unaffected) (Carrier) X Y WHAT HAPPENS IF I’M A CARRIER? If you are identified as a carrier of a genetic disorder, it does not mean that you have the condition or will become ill. It does mean that your reproductive partner should be offered testing for the same disorder. If both members of a couple are carriers for the same disorder, your doctor, genetic counselor or other health care provider will discuss reproductive and prenatal testing options with you. Genetic counseling can help you better understand these risks and the test results. X X Mother (carrier) (carrier) X Y X X 50% 25% Child Child Child Child (unaffected) (carrier) (carrier) (affected) Normal Gene Gene Mutation RECESSIVE INHERITANCE Quality answers about familial risk Appropriate follow-up testing if risks are discovered X X X Y Son Daughter Daughter Son (unaffected) (unaffected) (carrier) (affected) Normal Gene 25% Carrier screening can help you and your partner learn about the chance of having a child with a genetic disorder even before getting pregnant. Carrier screening for certain conditions is recommended for consideration by all pregnant couples. Screening may be helpful if you: Gene Mutation X-LINKED INHERITANCE WHAT IS GENETIC CARRIER SCREENING AND WHY IS IT IMPORTANT? Genetic carrier screening is one of the many tests that you or your physician can request before or during a pregnancy to help predict your chances of having a child with a genetic disorder. Even if you are healthy, have no family history of a specific condition, or have previous healthy children, you may be a carrier of a genetic condition. DEEPEN YOUR UNDERSTANDING WITH PERSONALIZED GENETIC COUNSELING Genetic counselors are experts trained in discussing genetic test results and familial risks. They can be an important resource should your results determine you are a carrier. All patients with a positive test result are offered the option of a complimentary, comprehensive genetic counseling session. During the session, a genetic counselor can help you understand your results in the context of your medical and family history, discuss potential implications, and review potential next steps. WILL MY INSURANCE COVER THIS TEST? Inquire with our billing team or your insurance provider to see if the HerediT Universal test is a covered benefit under your policy. Your financial obligation will be determined by the terms of your plan. WHAT HAPPENS IF I’M NOT A CARRIER? A negative or low-risk carrier screening test result significantly reduces your chances of carrying a mutation for a genetic disorder; however, it does not reduce your risk to zero. No carrier screening test can detect all mutations that may be present in carriers. Typically, with a negative result, the residual risks are significantly reduced such that you may feel comfortable not having further testing. HEREDIT® UNIVERSAL CARRIER SCREENING The HerediT Universal Carrier Screening test was developed to be the most customizable and comprehensive test, with over 250 genetic disorders available for screening. Your health care provider can discuss with you the test choices that may be relevant for you. The clearly defined results provide you and your health care provider with the information you need to identify potential hereditary risks. Identifying possible risks will provide you with vital knowledge to prepare and make informed decisions during your family planning process. Ask your doctor if the HerediT Universal Carrier Screening test is right for you. Following a positive carrier screen result, you may want to review your results with a genetic counselor to better understand what they mean to you. Call (877) 389-0668 or visit sequenom.youcanbook.me to schedule a complimentary appointment with an expert. ABOUT THE TEST The HerediT® Universal Carrier Screening test is a laboratory-developed test that was validated under Federal CLIA laboratory guidelines. The HerediT Universal test is performed exclusively by Reprogenetics, a CLIA-certified laboratory, and available through contract with Sequenom Laboratories. The test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although laboratorydeveloped tests to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test. Sequenom Laboratories and Reprogenetics are certified to perform high complexity clinical laboratory testing. INFORMATION THAT EMPOWERS At Sequenom Laboratories, we believe science can be revealing, knowledge is the key to planning, and information is empowering. No test is perfect. While results of this testing are highly accurate, a negative result significantly reduces but does not eliminate the chance of being a carrier. The results of this testing, including the benefits and limitations, should be discussed with your health care provider. A patient with a positive test result should be referred for genetic counseling and further evaluation. The patient’s reproductive partner and at-risk family members may also be tested. REVEALING THE UNKNOWN The HerediT® Universal tests are performed exclusively by Reprogenetics, a CLIA certified laboratory, and available through contract with Sequenom Laboratories. Bioinformatics is performed by Recombine. Sequenom Laboratories 3595 John Hopkins Court San Diego, CA 92121 [email protected] sequenom.com/laboratories Toll Free (within the US) at Comprehensive genetic carrier screening 877.821.7266 Sequenom®, Sequenom Laboratories™, and HerediT® are trademarks of Sequenom, Inc. and used with permission by Sequenom Center for Molecular Medicine, LLC, dba Sequenom Laboratories. ©2015 Sequenom Laboratories. All rights reserved. 31-20501R1.0 0315
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