How Expanded Genetic Testing Works


It may come as a surprise to know that
all humans carry genetic mutations for recessively inherited disorders. There
are thousands of recessive genetic disorders and every individual carries
some abnormal genes for these types of conditions. As long as a person has one
normal copy of the gene, it compensates for the abnormal one, which is why
carriers of a disorder do not develop symptoms of the disorder. This means that most people who carry mutations for recessively inherited disorders are
unaware that they carry them and usually do not have any family members that are
affected by the disorder. In an autosomal recessive disorder such as cystic
fibrosis, sickle-cell anemia, or tay-sachs an abnormal gene has to be inherited
through both the biological parent and the sperm donor for the child to exhibit
the disease. For this to happen, both the donor and mother must be carriers of the
abnormal gene, meaning they each have one normal and one abnormal copy of the gene.
If both parents carry an abnormal gene, the chance of a child inheriting both
abnormal genes and manifesting the disorder is 1 in 4 or 25%. If only the mother or the sperm donor is
a carrier of a specific mutation, the child has a 50% chance of being a
carrier for that condition but he or she is not at risk for developing the actual
disorder. The best way to decrease your child’s risk for inheriting an autosomal
recessive disorder is by knowing what mutations the biological mother carries
and then choosing a sperm donor who screened negative for those same
conditions. California Cryobank offers DNA advantage sperm donors who have been
screened using an expanded genetic testing panel that includes hundreds of
recessive genetic conditions. If the biological mother has a similar expanded
carrier screening panel performed and is identified to carry genetic mutations
for autosomal recessive disorders, you will be able to find a California
Cryobank donor who is negative for mutations for that same condition,
thereby decreasing the risk of inherited disorders in your offspring. This genetic
testing can be arranged through your physician. Several different genetic
testing companies offer expanded carrier screening, including the company we use
to screen our donors, Sema4, an affiliate of Mount Sinai Health System.
You can find contact information for Sema4 on our website. Genetic testing
is performed via a simple blood or saliva sample.Testing is typically
covered by insurance, with a low out-of-pocket expense. While only DNA
advantage donors have had the expanded genetic testing performed, all donors on
our catalog have had some genetic screening. If you are a known carrier for
a disorder and your donor has not had screening for that condition, our
genetics department can arrange for special testing on most sperm donors
available on our catalog. Please contact our genetics department with your
questions about genetic screening at 877-743-6384. Thank you for choosing California Cryobank to help start your
family; we look forward to adding you to our growing list of over 75,000 happy
families

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