Preconception Genetic Testing

Planning a pregnancy comes with many unknowns, and people often wonder what genetic testing options are available to help them better understand their risk to have a child with a genetic condition. Preconception genetic testing, also known as carrier screening, can be done prior to conception or during a pregnancy to assess if a person is a carrier of certain genetic conditions. People who are carriers are typically healthy and often do not have any family history of a genetic disorder, yet they are at an increased risk to have an affected child.

For information about genetic testing options that can only be performed during a pregnancy, visit genetic testing for pregnancy.

Preconception Genetic Testing

Planning a pregnancy comes with many unknowns, and people often wonder what genetic testing options are available to help them better understand their risk to have a child with a genetic condition. Preconception genetic testing, also known as carrier screening, can be done prior to conception or during a pregnancy to assess if a person is a carrier of certain genetic conditions. People who are carriers are typically healthy and often do not have any family history of a genetic disorder, yet they are at an increased risk to have an affected child.

For information about genetic testing options that can only be performed during a pregnancy, visit genetic testing for pregnancy.

What is Preconception
Carrier Testing?

Preconception carrier testing, also known as carrier screening, is a test that analyzes a person’s DNA to see if they are a carrier for a genetic condition. Carriers of genetic conditions are typically healthy and often do not know they are carriers. If both parents are carriers of the same genetic condition, or in some cases if just the biological mother is a carrier, then there would be an increased risk for their baby to be affected. Although carrier screening can identify individuals at risk to have a child with a genetic condition, it does not screen for all possible genetic conditions and does not assess risks for chromosome conditions, birth defects, or intellectual disabilities. Ideally, carrier screening is conducted prior to pregnancy, but screening can also be done during the first and second trimesters.

Insurance

With in-network insurance coverage, on average our patients pay $50 per visit. Genome Medical may not be covered in all cases.

Pay $50 per Visit

START NOW
Learn More

Self-Pay

We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session.

Pay just $179

START NOW
Learn More

This cost does not include genetic testing. Any genetic testing will need to be paid for separately.

There are two approaches to carrier screening. Some people choose to undergo targeted carrier screening, while others choose to have expanded carrier screening.

Pill icon
Targeted carrier screening: Screening only for conditions that are recommended for everyone and/or limited to genetic conditions that are more common based on a person’s ethnicity and personal and family history.
Pill icon
Expanded carrier screening: A broader approach to screening that includes conditions affecting a wide array of ethnicities.

What is Preconception
Carrier Testing?

Preconception carrier testing, also known as carrier screening, is a test that analyzes a person’s DNA to see if they are a carrier for a genetic condition. Carriers of genetic conditions are typically healthy and often do not know they are carriers. If both parents are carriers of the same genetic condition, or in some cases if just the biological mother is a carrier, then there would be an increased risk for their baby to be affected. Although carrier screening can identify individuals at risk to have a child with a genetic condition, it does not screen for all possible genetic conditions and does not assess risks for chromosome conditions, birth defects, or intellectual disabilities. Ideally, carrier screening is conducted prior to pregnancy, but screening can also be done during the first and second trimesters.

There are two approaches to carrier screening. Some people choose to undergo targeted carrier screening, while others choose to have expanded carrier screening.

Pill icon
Targeted carrier screening: Screening only for conditions that are recommended for everyone and/or limited to genetic conditions that are more common based on a person’s ethnicity and personal and family history.
Pill icon
Expanded carrier screening: A broader approach to screening that includes conditions affecting a wide array of ethnicities.

Insurance

With in-network insurance coverage, on average our patients pay $50 per visit. Genome Medical may not be covered in all cases.

Pay $50 per Visit

START NOW
Learn More

Self-Pay

We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session.

Pay just $179

START NOW
Learn More

This cost does not include genetic testing. Any genetic testing will need to be paid for separately.

What Does Preconception
Carrier Testing Screen for?

Expanded carrier screening can test for more than 100 genetic disorders. Typically these are conditions that cannot be cured, but may have treatment options.

Most of the conditions that are screened for are recessive, which means that biological parents who are both carriers of the same condition have a 1 in 4 (25%) risk of having a child with that genetic condition.

Commonly screened for recessive conditions include:

  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Tay-Sachs disease
  • Sickle cell anemia

Some of the conditions that are screened for are X-linked, which means that a woman who is a carrier has up to a 1 in 2 (50%) risk of having a child with that genetic condition.

Commonly screened for X-linked conditions include:

For those found to be at increased risk to have an affected child, reproductive options such as in vitro fertilization with preimplantation genetic testing, egg/sperm donation, or diagnostic testing during pregnancy are available.

What Does Preconception
Carrier Testing Screen for?

Expanded carrier screening can test for more than 100 genetic disorders. Typically these are conditions that cannot be cured, but may have treatment options.

Most of the conditions that are screened for are recessive, which means that biological parents who are both carriers of the same condition have a 1 in 4 (25%) risk of having a child with that genetic condition.

Commonly screened for recessive conditions include:

  • Cystic Fibrosis
  • Spinal Muscular Atrophy
  • Tay-Sachs disease
  • Sickle cell anemia

Some of the conditions that are screened for are X-linked, which means that a woman who is a carrier has up to a 1 in 2 (50%) risk of having a child with that genetic condition.

Commonly screened for X-linked conditions include:

For those found to be at increased risk to have an affected child, reproductive options such as in vitro fertilization with preimplantation genetic testing, egg/sperm donation, or diagnostic testing during pregnancy are available.

How Does Preconception Carrier Testing Work?

Carrier screening can be performed using a blood sample, saliva sample, or buccal (cheek) swab. Results are typically available in two to three weeks, at which point the ordering provider or the genetic counselor will review the results and discuss them with you. If you are found to be a carrier, the conversation about results will include risk numbers, recommendations for testing your reproductive partner, and recommendations for other members of your family. You might also discuss reproductive options such as in vitro fertilization, egg/sperm donation, or diagnostic testing that can be performed during a pregnancy.

How Does Preconception Carrier Testing Work?

Carrier screening can be performed using a blood sample, saliva sample, or buccal (cheek) swab. Results are typically available in two to three weeks, at which point the ordering provider or the genetic counselor will review the results and discuss them with you. If you are found to be a carrier, the conversation about results will include risk numbers, recommendations for testing your reproductive partner, and recommendations for other members of your family. You might also discuss reproductive options such as in vitro fertilization, egg/sperm donation, or diagnostic testing that can be performed during a pregnancy.

Who Is Preconception Carrier Testing Right for?

Anyone who wants to know more about their risk of having a child with a genetic condition prior to conception should consider preconception carrier screening. This is especially relevant for people of certain ethnicities or who have a personal or family history of a genetic condition.

Some examples of ethnicities with specific carrier screening recommendations include:

  • Ashkenazi Jewish ancestry: increased risk to be a carrier of Tay-Sachs disease and Gaucher disease, as well as many others
  • African ancestry: increased risk to be a carrier of sickle cell anemia
  • Mediterranean, Middle Eastern, and some Asian ancestries: increased risk to be a carrier of alpha or beta thalassemia
  • French Canadian or Cajun ancestry: increased risk to be a carrier of Tay-Sachs disease

There are other ethnicities with specific carrier recommendations other than those listed above. If you want to learn more about carrier screening recommendations based on your ethnicity or your personal or family medical history, start the Genome Care NavigatorTM today. This can provide you with additional information about screening options, assist with ordering this test for you, or connect you with a genetic counselor who can discuss your individualized carrier screening needs.

If you and your partner are struggling to have a baby, you may have asked yourself, “Is infertility genetic?” Or, “Can you test for infertility?” It may be beneficial to consult with a preconception genetic counselor during your reproductive journey.

Who Is Preconception Carrier
Testing Right for?

Anyone who wants to know more about their risk of having a child with a genetic condition prior to conception should consider preconception carrier screening. This is especially relevant for people of certain ethnicities or who have a personal or family history of a genetic condition.

Some examples of ethnicities with specific carrier screening recommendations include:

  • Ashkenazi Jewish ancestry: increased risk to be a carrier of Tay-Sachs disease and Gaucher disease, as well as many others
  • African ancestry: increased risk to be a carrier of sickle cell anemia
  • Mediterranean, Middle Eastern, and some Asian ancestries: increased risk to be a carrier of alpha or beta thalassemia
  • French Canadian or Cajun ancestry: increased risk to be a carrier of Tay-Sachs disease

There are other ethnicities with specific carrier recommendations other than those listed above. If you want to learn more about carrier screening recommendations based on your ethnicity or your personal or family medical history, start the Genome Care NavigatorTM today. This can provide you with additional information about screening options, assist with ordering this test for you, or connect you with a genetic counselor who can discuss your individualized carrier screening needs.

If you and your partner are struggling to have a baby, you may have asked yourself, “Is infertility genetic?” Or, “Can you test for infertility?” It may be beneficial to consult with a preconception genetic counselor during your reproductive journey.

Schedule Your
Genetic Consultation

Appointments as soon as the next business day

Insurance

With in-network insurance coverage, on average our patients pay $50 per visit. Genome Medical may not be covered in all cases.

Pay $50 per Visit

START NOW
Learn More

Self-Pay

We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session.

Pay just $179

START NOW
Learn More

This cost does not include genetic testing. Any genetic testing will need to be paid for separately.

Schedule Your Genetic Consultation

Appointments as soon as the next business day

Insurance

With in-network insurance coverage, on average our patients pay $50 per visit. Genome Medical may not be covered in all cases.

Pay $50 per Visit

START NOW
Learn More

Self-Pay

We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session.

Pay just $179

START NOW
Learn More

This cost does not include genetic testing. Any genetic testing will need to be paid for separately.

5 Things to Consider Before Getting
Preconception Carrier Testing

ONE

The decision to undergo preconception carrier testing, also known as carrier screening, and what type (targeted or expanded) to have, is a personal choice. There is no single approach that is best for everyone.

TWO

When deciding what carrier screening to have, consider what the results would mean for your family and what you would do with the information. Would you consider alternative options such as in vitro fertilization, egg/sperm donation, or adoption? Would you want to test the baby during the pregnancy, or would you be okay with finding out the information after the baby is born? These questions can help guide your decision.

THREE

For most conditions included on carrier screening, both parents must be carriers in order to have a child with the condition. If one person is a carrier and the other tests negative, the risk to their future children is low. However, some genetic conditions are passed down through carrier mothers only.

FOUR

Specific recommendations about what carrier screening should be considered will vary depending on your ethnicity and personal and family medical history. If you want to learn more about carrier screening recommendations based on your ethnicity or your personal or family medical history, start the Genome Care NavigatorTM today. This can provide you with additional information about screening options, assist with ordering this test for you, or connect you with a genetic counselor who can discuss your individualized carrier screening needs. If you are considering a visit with a genetic counselor, visit When is the best time to consider speaking to a genetic expert about my family planning?

FIVE

Carrier screening cannot detect every carrier of a genetic condition. Also, many medical conditions, birth defects or intellectual disabilities do not have a single, specific genetic cause that can be screened for. No matter how many genetic tests are performed, there will always be a risk to have a child with an unexpected medical condition. However, preconception and pregnancy genetic testing can help reduce that risk. Visit How can I ensure that I’ll have a healthy baby? to find out more.

Frequently Asked Questions About
Preconception Carrier Testing

Should you get genetic testing before getting pregnant?

The ideal time to undergo carrier screening is before getting pregnant. This allows the person or couple to make informed decisions about whether to pursue alternative reproductive options such as egg or sperm donation from someone who is not a carrier or in vitro fertilization with preimplantation genetic testing of the embryo. Even if someone is not interested in alternative reproductive options, carrier screening before a pregnancy gives them more time to understand the risk of passing a genetic condition to their future children.

Carrier screening can also be performed during a pregnancy. Learn more about prenatal genetic testing options.

How much does preconception carrier testing cost?

The cost of carrier screening depends on many factors. Some insurance companies cover all testing options, while other insurance companies cover just a few. Many genetic testing laboratories have self pay options, payment plans and programs to provide lower cost testing options to individuals with financial need. It is recommended that someone considering genetic testing talk with their insurance company to best understand what will, and will not, be covered and at what percent.

Learn more about how much genetic testing costs for pregnancy.

Is preconception carrier testing necessary?

Carrier screening is optional and the decision to have this testing should be based on your own beliefs, personality, and needs. Some people want to know if there is an increased risk to have a pregnancy affected with a genetic condition so that they have the option to investigate alternative reproductive options, test a baby during pregnancy, or make a plan for the future. Some people do not want to have carrier screening because they feel that the results would not change their pregnancy plans and could make them more anxious.

Click here to visit the Genome Care NavigatorTM, which can give you more information about carrier screening, assist with ordering this test for you, or connect you with a genetic counselor who can discuss your individualized carrier screening needs.

For more factors to consider before pursuing carrier screening, visit How do I know which genetic test I should have?

5 Things to Consider Before Getting Preconception Carrier Testing

ONE

The decision to undergo preconception carrier testing, also known as carrier screening, and what type (targeted or expanded) to have, is a personal choice. There is no single approach that is best for everyone.

TWO

When deciding what carrier screening to have, consider what the results would mean for your family and what you would do with the information. Would you consider alternative options such as in vitro fertilization, egg/sperm donation, or adoption? Would you want to test the baby during the pregnancy, or would you be okay with finding out the information after the baby is born? These questions can help guide your decision.

THREE

For most conditions included on carrier screening, both parents must be carriers in order to have a child with the condition. If one person is a carrier and the other tests negative, the risk to their future children is low. However, some genetic conditions are passed down through carrier mothers only.

FOUR

Specific recommendations about what carrier screening should be considered will vary depending on your ethnicity and personal and family medical history. If you want to learn more about carrier screening recommendations based on your ethnicity or your personal or family medical history, start the Genome Care NavigatorTM today. This can provide you with additional information about screening options, assist with ordering this test for you, or connect you with a genetic counselor who can discuss your individualized carrier screening needs. If you are considering a visit with a genetic counselor, visit When is the best time to consider speaking to a genetic expert about my family planning?

FIVE

Carrier screening cannot detect every carrier of a genetic condition. Also, many medical conditions, birth defects or intellectual disabilities do not have a single, specific genetic cause that can be screened for. No matter how many genetic tests are performed, there will always be a risk to have a child with an unexpected medical condition. However, preconception and pregnancy genetic testing can help reduce that risk. Visit How can I ensure that I’ll have a healthy baby? to find out more.

Frequently Asked Questions About
Preconception Carrier Testing

Should you get genetic testing before getting pregnant?

The ideal time to undergo carrier screening is before getting pregnant. This allows the person or couple to make informed decisions about whether to pursue alternative reproductive options such as egg or sperm donation from someone who is not a carrier or in vitro fertilization with preimplantation genetic testing of the embryo. Even if someone is not interested in alternative reproductive options, carrier screening before a pregnancy gives them more time to understand the risk of passing a genetic condition to their future children.

Carrier screening can also be performed during a pregnancy. Learn more about prenatal genetic testing options.

How much does preconception carrier testing cost?

The cost of carrier screening depends on many factors. Some insurance companies cover all testing options, while other insurance companies cover just a few. Many genetic testing laboratories have self pay options, payment plans and programs to provide lower cost testing options to individuals with financial need. It is recommended that someone considering genetic testing talk with their insurance company to best understand what will, and will not, be covered and at what percent.

Learn more about how much genetic testing costs for pregnancy.

Is preconception carrier testing necessary?

Carrier screening is optional and the decision to have this testing should be based on your own beliefs, personality, and needs. Some people want to know if there is an increased risk to have a pregnancy affected with a genetic condition so that they have the option to investigate alternative reproductive options, test a baby during pregnancy, or make a plan for the future. Some people do not want to have carrier screening because they feel that the results would not change their pregnancy plans and could make them more anxious.

Click here to visit the Genome Care NavigatorTM, which can give you more information about carrier screening, assist with ordering this test for you, or connect you with a genetic counselor who can discuss your individualized carrier screening needs.

For more factors to consider before pursuing carrier screening, visit How do I know which genetic test I should have?

Schedule Your Genetic
Counseling Consultation

Genetic testing is right for people who have symptoms of a genetic heart disease or have a family history of a genetic heart condition. It might also be right for you if you don’t fit into these situations, but wish to be proactive about your health. Speaking to a genetic counselor can help you learn more about this.

Insurance

With in-network insurance coverage, on average our patients pay $50 per visit. Genome Medical may not be covered in all cases.

Pay $50 per Visit

START NOW
Learn More

Self-Pay

We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session.

Pay just $179

START NOW
Learn More

This cost does not include genetic testing. Any genetic testing will need to be paid for separately.

Ready to learn more?

Schedule Your Genetic Counseling Consultation

Genetic testing is right for people who have symptoms of a genetic heart disease or have a family history of a genetic heart condition. It might also be right for you if you don’t fit into these situations, but wish to be proactive about your health. Speaking to a genetic counselor can help you learn more about this.

Insurance

With in-network insurance coverage, on average our patients pay $50 per visit. Genome Medical may not be covered in all cases.

Pay $50 per Visit

START NOW
Learn More

Self-Pay

We offer an affordable self-pay option for our patients who prefer to pay out-of-pocket. Pay just $179 for a genetic counseling session.

Pay just $179

START NOW
Learn More

This cost does not include genetic testing. Any genetic testing will need to be paid for separately.

Ready to learn more?

Featured

Young pregnant woman using a tablet device

Understanding
Reproductive Genetics

LEARN MORE

Pregnant woman smiling

Genetic Screening and Diagnostic Testing in Pregnancy

LEARN MORE

What is Genetic Counseling?

Can You Test
for Infertility?

LEARN MORE

Featured

Featured

Pregnant woman using laptop

Understanding
Reproductive Genetics

LEARN MORE

Pregnant woman with young daughter

Genetic Screening and Diagnostic Testing in Pregnancy

LEARN MORE

Pregnant woman talking with doctor

Can You Test
for Infertility?

LEARN MORE