What is carrier screening?
Why do I need carrier screening?
My partner and I both want to have a carrier screen. Do we need to be tested at the same time?
If you or your partner are currently pregnant, we recommend that both of you be tested at the same time. Most of the conditions included in our testing are autosomal recessive. This means that both the man and woman must be carriers for the same condition to have an increased risk of having an affected child. Completing testing at the same time will provide you with risk information in a time sensitive manner.
If you or your partner are not currently pregnant, we recommend that the woman completes carrier screening first. Our Expanded Carrier Screening includes 21 X-linked conditions. For these conditions, only the woman needs to be a carrier to have an increased risk of having an affected child. Depending on a woman’s results, her partner may not need to complete testing or will only need to complete testing for one or two conditions instead of the full panel.
If I am a carrier, what is the risk that my children will inherit the condition?
What are my reproductive options if I am a carrier?
I was found to be a carrier for a certain condition. Does my partner only need to be tested for that one disease, or should they receive the full panel?
What are genes and gene variants?
How are genetic disorders inherited?
There are multiple ways by which a genetic disease can be inherited. Autosomal recessive conditions, like cystic fibrosis, occur when variants are present in both the maternal and paternal copies of a gene. Each parent of an affected individual has one copy of a gene that works properly and one copy that does not. The parents are generally unaffected and are considered carriers of the disease. Their children may inherit two normal copies of the gene (unaffected), one normal copy and one variant copy (carriers), or two abnormal copies of the gene (affected with the genetic condition).
There are also genetic conditions, like fragile X syndrome, where the variant is linked to the X chromosome only. A chromosome is a structure that contains genes. Most people have 46 chromosomes, or 23 pairs. One chromosome in each pair is inherited from a person’s mother and one from the person’s father. The 23rd pair (called the sex chromosomes) determines whether a person is male or female. Typically, a male has one X and one Y chromosome, and a female has two X chromosomes. When a male child is conceived he receives the Y chromosome from his father and one of his mother’s X chromosomes (at random). When a female child is conceived, she receives the X chromosome from her father and one of her mother’s X chromosomes (at random).
If a woman is a carrier for an X-linked genetic condition, she will have a normal copy of a gene on one X chromosome and a copy with a variant on the other X chromosome. This means that her children may inherit the X chromosome with the variant. Male children who inherit an abnormal X chromosome are generally affected by the associated condition, whereas female children are normally unaffected carriers (carrier females may be affected, to a variable degree, based on disease or variant).
Sema4 Expanded Carrier Screen (ECS)
How is Sema4 ECS different than other genetic tests?
I think I may have had some genetic testing in the past. Do I need to have Sema4 ECS?
How long does it take to receive the test results?
How much blood do you need to do all of this testing?
I’m not comfortable getting my blood drawn. Do you accept any other specimen type for carrier screening?
You seem to be testing for a lot of diseases. What exactly is covered by Sema4 ECS?
While a comprehensive carrier screen is recommended if you are pregnant or planning for pregnancy, the Sema4 ECS panel can also be customized for your unique family planning needs. We have 4 test offerings:
- Standard Panel: The 4 diseases on this panel are recommended for persons of any ethnic background who want to be tested for only the standard diseases.
- High-Frequency Panel: These 10 diseases were found to occur at an increased frequency in all ethnic backgrounds.
- Comprehensive Jewish Carrier Screen: This panel of 96 disorders includes 48 diseases relevant to the Ashkenazim, 38 diseases relevant to the Sephardi and Mizrahi communities, and 10 diseases common to all people of Jewish descent.
- Expanded Carrier Screen: A comprehensive carrier screen, which tests for 281 disorders. This test is strongly recommended if you are pregnant or planning for pregnancy
For additional information or guidance on customizing your carrier screen, please contact us to speak with one of our genetic counselors.
I am 100% Ashkenazi Jewish. Do I need the full Comprehensive Jewish Carrier Screen for 96 disorders even if I don’t have any Sephardi or Mizrahi blood?
Billing and Insurance
Do you take my insurance?
My insurance company is in-network with Sema4. What will be covered?
Copays, co-insurance, and deductibles vary by health plan and benefits design. To determine what your out-of-pocket expense may be, please contact your insurance provider via the number on the back of your insurance card or contact Sema4 by email at email@example.com with the following information:
- Your name
- Your date of birth
- The name of your insurance company
- Your insurance ID number
- The genetic test(s) that your physician or genetic counselor have recommended for you