Carrier Screening Test
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WHAT IS CARRIER SCREENING?
Carrier screening is a genetic test used to identify carriers of inherited conditions. Carriers have genetic
changes within their DNA that increase their risk to have a child with a genetic disorder. Research has
shown that most people are a carrier for at least one condition; however, most people are not aware of their
carrier status because they do not have symptoms or a family history of disease.
WHO SHOULD HAVE CARRIER SCREENING?
According to the American College of Obstetricians and Gynecologists (ACOG), expanded carrier
screening should be offered to pregnant women and women considering pregnancy, regardless of ethnicity
and family history. Expanded carrier screening tests for hundreds of genetic conditions and is considered
an appropriate approach for carrier screening during pregnancy. If a woman is found to be a carrier for a
specific condition, carrier screening for her partner should be considered.
WHO IS THIS TEST FOR?
Individuals of child-bearing age
Individuals with a family history of genetic disorders
Those considering in vitro fertilization
Pregnant people and those planning a pregnancy
Individuals with partners who are carriers of genetic disorders
Those considering sperm or egg donation
FEATURED CARRIER SCREENING PANELS
787-Expanded | Comprehensive | Pan-Ethnic
The largest carrier screening panel available, this panel provides an extensive evaluation of pan-ethnic
genetic risks for reproductive pairs by analyzing more than 700 genes. The panel includes all 113 ACMG
tier 3 genes and many additional conditions that may have severe presentation.
WHAT CAUSES RECESSIVE GENETIC CONDITIONS AND HOW ARE THEY
INHERITED?
Genes are the instructions in our DNA that tell our bodies how to grow and develop. For
most genes we inherit two copies: one from our mother and one from our father. We all have
millions of genetic changes; many are benign and do not cause disease or impact our
health. However, some changes may be harmful and can cause disease in ourselves or
when passed down to our children. These harmful changes, or mutations, prevent the gene
product from working properly.
An autosomal recessive (AR) conditions occur when a child inherits two mutated
copies of a gene, one from each carrier parent. Because the parent carriers have just one
abnormal copy, they usually do not display symptoms.
X-linked (XL) recessive conditions occur due to a mutated gene located on the X
chromosome. Because males only have one X chromosome, a male will be affected if he
inherits a mutated gene from his mother. Because females have two X chromosomes, carrier
mothers and daughters usually do not display symptoms.
WHAT WILL THE CARRIER SCREENING TEST TELL ME?
Through testing a sample of your blood, Carrier Screening tests look for harmful changes
(mutations) in your genes that increase your risk to have a child affected with a recessive
genetic condition. Your results will tell you if you are a carrier for the tested conditions. If you
are identified as a carrier, your partner should consider screening to determine if you are
both carriers for the same condition.
WHAT ARE THE BENEFITS OF CARRIER SCREENING?
Carrier screening enables couples to become aware of their reproductive options, prenatal
testing options, and the opportunity to prepare for a child with a genetic disorder. It is
important to discuss these options with your specialist or clinical geneticist to determine
which is most appropriate for you and your family.
IF I AM A CARRIER, WHAT ARE THE CHANCES I COULD HAVE AN AFFECTED
CHILD?
If you and your partner are carriers for the same autosomal recessive condition, there is a 1
in 4 (25%) chance with each pregnancy, your child will be affected. For X-linked recessive
conditions, only the mother has to be a carrier for her children to be at risk. If the mother is a
carrier of an X-linked recessive condition, there is a 1 in 2 (50%) chance her son will be
affected.
AFTER TESTING, WHO CAN I SPEAK WITH ABOUT MY RESULTS?
Our geneticist are available to answer questions about testing and results. Once the carrier
screening test is completed, we can connect you and your partner with genetic counseling
services.
Carrier screening is a genetic test used to identify carriers of inherited conditions. Carriers have genetic
changes within their DNA that increase their risk to have a child with a genetic disorder. Research has
shown that most people are a carrier for at least one condition; however, most people are not aware of their
carrier status because they do not have symptoms or a family history of disease.
WHO SHOULD HAVE CARRIER SCREENING?
According to the American College of Obstetricians and Gynecologists (ACOG), expanded carrier
screening should be offered to pregnant women and women considering pregnancy, regardless of ethnicity
and family history. Expanded carrier screening tests for hundreds of genetic conditions and is considered
an appropriate approach for carrier screening during pregnancy. If a woman is found to be a carrier for a
specific condition, carrier screening for her partner should be considered.
WHO IS THIS TEST FOR?
Individuals of child-bearing age
Individuals with a family history of genetic disorders
Those considering in vitro fertilization
Pregnant people and those planning a pregnancy
Individuals with partners who are carriers of genetic disorders
Those considering sperm or egg donation
FEATURED CARRIER SCREENING PANELS
787-Expanded | Comprehensive | Pan-Ethnic
The largest carrier screening panel available, this panel provides an extensive evaluation of pan-ethnic
genetic risks for reproductive pairs by analyzing more than 700 genes. The panel includes all 113 ACMG
tier 3 genes and many additional conditions that may have severe presentation.
WHAT CAUSES RECESSIVE GENETIC CONDITIONS AND HOW ARE THEY
INHERITED?
Genes are the instructions in our DNA that tell our bodies how to grow and develop. For
most genes we inherit two copies: one from our mother and one from our father. We all have
millions of genetic changes; many are benign and do not cause disease or impact our
health. However, some changes may be harmful and can cause disease in ourselves or
when passed down to our children. These harmful changes, or mutations, prevent the gene
product from working properly.
An autosomal recessive (AR) conditions occur when a child inherits two mutated
copies of a gene, one from each carrier parent. Because the parent carriers have just one
abnormal copy, they usually do not display symptoms.
X-linked (XL) recessive conditions occur due to a mutated gene located on the X
chromosome. Because males only have one X chromosome, a male will be affected if he
inherits a mutated gene from his mother. Because females have two X chromosomes, carrier
mothers and daughters usually do not display symptoms.
WHAT WILL THE CARRIER SCREENING TEST TELL ME?
Through testing a sample of your blood, Carrier Screening tests look for harmful changes
(mutations) in your genes that increase your risk to have a child affected with a recessive
genetic condition. Your results will tell you if you are a carrier for the tested conditions. If you
are identified as a carrier, your partner should consider screening to determine if you are
both carriers for the same condition.
WHAT ARE THE BENEFITS OF CARRIER SCREENING?
Carrier screening enables couples to become aware of their reproductive options, prenatal
testing options, and the opportunity to prepare for a child with a genetic disorder. It is
important to discuss these options with your specialist or clinical geneticist to determine
which is most appropriate for you and your family.
IF I AM A CARRIER, WHAT ARE THE CHANCES I COULD HAVE AN AFFECTED
CHILD?
If you and your partner are carriers for the same autosomal recessive condition, there is a 1
in 4 (25%) chance with each pregnancy, your child will be affected. For X-linked recessive
conditions, only the mother has to be a carrier for her children to be at risk. If the mother is a
carrier of an X-linked recessive condition, there is a 1 in 2 (50%) chance her son will be
affected.
AFTER TESTING, WHO CAN I SPEAK WITH ABOUT MY RESULTS?
Our geneticist are available to answer questions about testing and results. Once the carrier
screening test is completed, we can connect you and your partner with genetic counseling
services.
