HerediT® patient brochure

WHY SEQUENOM?
In addition to being a pioneer in the science of genetic testing
for reproductive health, Sequenom Laboratories is leading the
way in making such testing affordable and accessible.
We’re in-network with every major insurer. We accept all
patients. Here are more ways that pioneering science meets
personalized service at Sequenom Laboratories.
Cost estimator
Wondering what your out-of-pocket costs may
be? Visit sequenom.com/everymom, select a
test name, enter your insurance info, and get an
estimate in seconds.
Test limitations
HerediT is a laboratory-developed test developed, validated and performed
exclusively by Reprogenetics and available through contract with Sequenom
Laboratories. The test has not been cleared or approved by the US Food and Drug
Administration (FDA). Although laboratory-developed tests to date have not been
subject to US FDA regulation, certification of the laboratory is required under the
Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity
of test results. Reprogenetics is certified under CLIA as qualified to perform high
complexity clinical laboratory testing.
While the results of the HerediT test are highly accurate, discordant results may occur
due to bone marrow transplantation, blood transfusions or other causes. In some
cases, genetic variations other than those being tested may interfere with mutation
detection, resulting in false negative or false positive results. The test does not test for
all forms of genetic disease, birth defects, and intellectual disability. All results should
be interpreted in the context of family history; additional evaluation may be indicated
based on a history of these conditions. Additional testing may be necessary to
determine mutation phase in individuals identified to carry more than one mutation in
the same gene. All mutations included within the genes assayed may not be detected,
and additional testing may be appropriate for some individuals. A patient with a
positive test result should be referred for genetic counseling and further evaluation.
References for this brochure are available at
www.sequenom.com/references/31-20501R3-0
Mobile blood draw
We’ve got you covered with a mobile blood draw
service—where the blood draw comes to you.
And this service (where available) comes at no
additional charge.
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
[email protected]
sequenom.com
Genetic counseling
Should you and your partner screen positive for
the same mutation, a genetic counseling session
will be offered to help you understand your results
and possible next steps for no additional cost
to you.
Every Mom Pledge
Toll free (within the US) at
844.799.3243
SEQUENOM®, Sequenom Laboratories™, and HerediT® are trademarks of Sequenom,
Inc. All other trademarks are the property of their respective owners. © 2016
Sequenom Laboratories. All rights reserved.
View short videos on genetic testing:
sequenom.com/videos
We believe every mom should have access to the
best possible care. That’s why we work directly
with every patient to make sure Sequenom
Laboratories testing services are both accessible
and affordable, no matter what.
Visit www.sequenom.com/everymom, or call 844.799.3243
31-20501R3.0 0916
Will you pass it on?
Everyone carries genetic mutations, but not
everyone passes them on to their children.
Find out your carrier status if you’re pregnant
or planning to be.
We all carry something—which is why we
all need carrier screening
Did you know that we each may carry as many as five genetic
mutations?1,2 Most people don’t know what they carry because
they 1) show no symptoms of a genetic disorder, 2) have no
known family history of a disorder, or 3) have never had a
carrier screening test.
Carrier screening is a test performed using a blood or saliva
sample to detect the genetic mutations you may carry. While
most mutations you carry may not cause any problem in
you, being a carrier means there is a risk for a disorder to be
passed on to your children, which is why carrier screening
should be an early step in family planning.
A 1-in-4 (25%) chance of being affected
A foundation of
family planning.
The chances of having a child affected with a genetic disorder
are often slim, but they increase substantially if both parents
carry a mutation for the same genetic disorder.
For example, mutations that can cause cystic fibrosis (CF)—
which can affect the lungs and other organs, and often results
in a lifespan of around 37 years3—are carried by 1 out of 31
people in the US alone. And when two people who carry CF
have a child there is a 25% chance with each pregnancy that
the child will be born with cystic fibrosis.
Not all genetic disorders require both parents be carriers.
In some cases, only the mother need be a carrier in order to
have a child with the disorder—such as Fragile X syndrome,
which affects 1 in 4000 males and causes developmental
disability.4
Family planning starts with HerediT
Sequenom Laboratories’ HerediT®, a comprehensive
laboratory-developed carrier screening test, can detect
genetic mutations for more than 250 genetic disorders.
Knowing what you—and you partner—may carry can help
you better understand your reproductive options, and better
prepare for pregnancy and parenthood.
Getting the HerediT test is fast and simple:
Your doctor collects a blood or saliva sample from
you (and/or your partner).
The sample is sent to our laboratory for analysis.
In approximately two weeks, your results—with clear
answers on what you screened positive or negative
for—are returned to your doctor.
If you or your partner screens positive, Sequenom
Laboratories offers genetic counseling services to help you
better understand what those results mean— now, and down
the line.
If you both carry the same mutation, there are still plenty of
options available, such as in vitro fertilization, prenatal testing
(to see if the disorder was passed to the child) and more to
help you find your best reproductive path.