Recessive Gene Screening is a simple blood test from one or both parents that can be done either before conception or after conception. A parent can be a carrier for a particular disease and be symptom free. Having one normal copy of the gene is sufficient to prevent the disease. However, if both parents are carriers of the same disease, there is a chance that they can pass down either their normal copy or the mutated copy of the gene to their offspring. If both parents are carriers for the same genetic disease, then there is 1 in 4 (or 25%) chance of having an affected child.

1. Recessive Gene Screening
What is Recessive Gene Screening?
Recessive Gene Screening is a simple blood test from one or both parents that can be done either before
conception or after conception. A parent can be a carrier for a particular disease and be symptom free.
Having one normal copy of the gene is sufficient to prevent the disease. However, if both parents are carriers
of the same disease, there is a chance that they can pass down either their normal copy or the mutated copy
of the gene to their offspring. If both parents are carriers for the same genetic disease, then there is 1 in 4 (or
25%) chance of having an affected child.
Common reasons for testing for Recessive Gene Screening include:
• You, your partner, or someone in your immediate family has a genetic disorder,
birth defect, or mental retardation.
• You or your partner had a previous pregnancy with a birth defect or genetic condition.
• You want to know more about testing for recessive genetic diseases that are common
in certain ethnic backgrounds.
• You have experienced three or more miscarriages with unknown explanation.
• You are seeking information about available screening and diagnostic testing or are
undecided about the best option for you.
• IVF patients who need egg donation or sperm donation.
What are these recessive genetic diseases?
PacGenomics genetic lab provides a list of 91 recessive disease genes in which some are more common than
the others. You and your partner can be a carrier of one or more of these diseases even though no one in your
family is affected. If someone in your family has been identified to have one of these diseases, your risk to be
a carrier is greater than that of the general population. If you are using a donor sperm/egg and you are a
carrier for any of these recessive genetic diseases, you may consider screening the donor sperm/egg.
What are the next steps
if you are a carrier of a
special disease?
It is highly recommended to speak
with a Genetic Counselor from
PacGenomics. The Genetic
Counselor will further explain what it
means to be a carrier of that disease
and what the next appropriate step
is to take, and help you make an
informed decision.
*It is important to note that a negative test result significantly reduces the chance of being a carrier but it does not eliminate the risk of being a carrier. Recessive Gene
Screening is only able to screen for the most common mutations in a specific genetic disease and it does not detect all the existing mutations.
*Recessive Gene Screening is for Research Use Only (RUO). It is not a diagnostic testing.
Village Medical Center
166 N. Moorpark Road, Suite 203
Thousand Oaks, CA 91360
www.PacGenomics.com • (310) 956-4829