Q: What does it mean to be a carrier and what future steps can be taken?

If both partners are identified as carriers of the same autosomal recessive condition, the couple has a 25% risk with each pregnancy to have a child affected with that disease. The couple also has a 50% chance with each pregnancy to have a child who is a carrier of the disease, and a 25% chance to have a child who does not inherit a pathogenic variant from either parent and is not a carrier. If a woman is identified as a carrier of an X-linked condition, she has a 50% chance with each pregnancy to pass on the X chromosome with the pathogenic variant and an increased risk to have an affected son or mildly affected daughter. When an at-risk couple is identified, our Clinical Genetic Counselors can provide information and support which may be helpful in making important family planning decisions. Reproductive options that may be offered to you include: chorionic villus sampling (CVS), amniocentesis, in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), sperm or egg donation and adoption. For most diseases, being identified as a carrier has no implications on one’s own health. However, for a small number of autosomal recessive conditions and X-linked conditions on this panel, a person identified as a carrier may actually manifest mild symptoms of the disease and/or manifest symptoms at a later stage in life than would be expected in a truly affected individual.
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Q: What are genes and genetic disorders and how are genetic disorders inherited?

Genes are basic units of hereditary information that code for all of the body’s traits and functions. A change, known as a pathogenic variant, in a gene can cause that gene not to function properly. This can lead to disease. Genes are carried on larger structures called chromosomes. Most individuals have 46 chromosomes or 23 pairs (one chromosome from each pair is inherited from a person’s mother and the other from the person’s father). These pairs are numbered 1 through 22 and 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 received the Y chromosome from his father and one of his mother’s X chromosomes (at random). When a female child is conceived she received the X chromosome from her father and one of her mother’s X chromosomes (at random). There are multiple ways by which a genetic disease can be inherited. Autosomal recessive conditions, like Cystic Fibrosis, occur when pathogenic 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. X-linked conditions, like Fragile X Syndrome, occur when there is a pathogenic variant in a gene on the X chromosome. “Carrier” females have a working copy of a gene on one X chromosome and a copy with a pathogenic variant on the other X chromosome. If the X chromosome with the pathogenic variant is passed on by the female, along with a Y chromosome from the male, the resulting son will have the X-linked condition. Males with an X-linked condition are generally affected and females are generally unaffected carriers (carrier females may be affected, to a variable degree, based on disease or pathogenic variant).
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Q: I was tested and found to be a carrier for a certain condition, does my partner only need to be tested for that one disease or do they need to repeat the full panel?

If a woman completed testing first and was found to be a carrier for a certain autosomal recessive condition, her partner only needs to be tested for that certain condition. If she was found to be a carrier for a X-linked condition, her partner does not need to be tested. If a man completed testing first and was found to be a carrier for a certain condition, his partner will be recommended to have testing for the certain condition as well as the X-linked conditions included on our panel. If you have questions about what testing your partner should complete, contact a Laboratory Genetic Counselor to discuss appropriate testing.
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Q: My partner and I want to complete genetic testing. Do we both need to complete testing 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, which require that both the man and the woman be carriers for the same condition for there to be an increased risk to have an affected child. By completing testing at the same time, you will receive risk information in a time sensitive manner. If you or your partner are not currently pregnant, we recommend that the woman complete testing first. Our testing includes 21 X-linked conditions, which require that only the woman be a carrier for there to be an increased risk to have an affected child. Depending on a woman’s results, her partner may not need to complete testing or only complete testing for one or two conditions instead of the full panel.
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Q: I think I may have had some genetic testing in the past, do I need to have the NextStep carrier screen?

It is likely that the NextStep carrier screen includes more disorders and a greater depth of analysis than the previous genetic testing you completed. It is therefore still beneficial to repeat testing through our laboratory. Not all conditions apply to this generalization, so please contact our laboratory and a Genetic Counselor can help review your past results.
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Q: I am 100% Ashkenazi Jewish, do I need the full Comprehensive Jewish panel of 96 disorders even if I don’t have any Sephardi or Mizrahi blood?

We would recommend performing the entire Comprehensive Jewish panel of 96 disorders as we have found rare instances where self-reported Ashkenazi Jewish individuals had a mutation thought to be primarily found in the Sephardi or Mizrahi sub-groups. The same holds true for individuals who are of Sephardi or Mizrahi backgrounds inquiring about the utility of performing testing for diseases thought to be relevant to the Ashkenazim.
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