HerediT Genetic Carrier Screening

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