nxtPanel Cystic Fibrosis, Spinal Muscular Atrophy and

nxtPanel
Cystic Fibrosis,
Spinal Muscular Atrophy
and Fragile X Syndrome
A Guide to Genetic
Carrier Screening
Prepare for life.
It’s not about finding
out what’s wrong.
It’s about knowing
everything is
all right.
If you’re an expectant parent, or planning a
pregnancy, you probably want to know all you
can about your future family.
Genetic carrier screening allows for a closer
look at your genes, to see if there is a chance your
baby could inherit certain genetic disorders.
Our nxtPanel is a genetic carrier screening test
that can identify your risk for having a child with
one of these common hereditary disorders:
cystic fibrosis, spinal muscular atrophy,
and fragile X syndrome. It’s a simple test that
can help you plan with confidence.
How is the test performed?
A simple test of your DNA (using a blood sample,
mouthwash sample or cheek swab) can determine
with a high degree of accuracy whether you are a
carrier of a genetic disorder.
Disease
Cystic Fibrosis (CF)
Spinal Muscular
Atrophy (SMA)
Fragile X Syndrome
(FXS)
Symptoms
CF is the most common fatal genetic
disorder in North America.
SMA is the most common
inherited cause of infant
death.
FXS is the most common
inherited cause of
intellectual disability.
It affects a person’s ability
to control their muscles,
including those involved in
breathing, eating, crawling
and walking. SMA has
different levels of severity,
none of which affect
intelligence. However, the
most common form of the
disorder causes death by
age two.
Symptoms cover a wide
range, from mild to very
severe. About one-third
of all people with FXS
also have autism.
It causes the body to produce very
thick mucus that can damage internal
organs. It clogs the lungs—leading to
life-threatening infections—and can
cause digestive problems, poor growth
and infertility.
Symptoms range from mild to
severe, but do not affect intelligence.
On average, CF patients live into their
late thirties.
About 1 in every 3,500 babies born in
the US has the disorder.
About one in every 6,000 to
one in every 10,000 babies
born in the US has SMA.
Individuals with the
disorder may also have
behavioral issues such
as hyperactivity, social
anxiety and aggression.
Females usually have milder
symptoms than males.
Approximately 1 in every
3,600 boys and 1 in every
6,000 girls is born with FXS.
Inheritance
When both parents are carriers, there
is a 1 in 4 (25%) chance the child will
be affected.
When both parents are
carriers, there is a 1 in 4
(25%) chance the child will
be affected.
When only the mother is a
carrier, there is up to a 1 in 2
(50%) chance the child will
be affected.
Carrier
Frequency
1 in 24 Ashkenazi Jews
1 in 25 Caucasians
1 in 46 Hispanics
1 in 65 African-Americans
1 in 94 Asians
1 in 35 Caucasians
1 in 41 Ashkenazi Jews
1 in 53 Asians
1 in 66 African-Americans
1 in 117 Hispanics
1 in 259 females across
all ethnic groups
What does a negative result mean?
What does a positive result mean?
A negative result indicates you are not a carrier
for the disorders tested, which can provide
significant peace of mind. However, no test can
detect 100% of genetic carriers. Even if your test
results are negative, it is still possible that your
baby could inherit a genetic disorder, but the
chance is extremely small.
A positive result tells you that you are a carrier of a
genetic disorder, and you could be at risk of having
an affected child. In some cases, it is important to
find out if your partner is also a carrier.
How are genetic disorders inherited?
You have two copies of every gene: one copy was
inherited from your mother and one copy from
your father.
A person who has one normal gene and one
abnormal gene that can cause a genetic disorder
is called a carrier. A carrier is not affected by the
disorder, but they can pass on the abnormal gene
to future generations.
Anyone can be a carrier of a genetic disorder,
even if there is no family history. Many times,
genetic disorders stay “hidden” in a family. You
could be a carrier and not know it until a child is
born with the disease.
What if my partner and I are
at risk for having a child with
a genetic disorder?
If you are pregnant, prenatal diagnostic tests
can tell you whether your baby is affected by
the disorder.
There are also options to prevent genetic
disorders prior to pregnancy. These options
include in vitro fertilization, using a diagnostic
test to select healthy embryos for implantation,
or using donor eggs or sperm from a person
who is not a carrier. Some couples choose
to adopt a child. Your doctor or a genetic
counselor can discuss these options in
greater detail.
Is genetic carrier screening required?
All testing is optional. The decision to accept
or decline genetic carrier screening is completely
up to you. You can choose to test for all, some,
or none of these disorders.
For more information, visit
progenity.com
Scan this code with your
mobile phone to watch
a video about genetic
carrier testing.
Peace of Mind for Patients
At Progenity, we believe all patients should
have access to the highest-quality genetic tests
without the burden of exorbitant medical costs.
That’s why we offer the Peace of Mind program,
which provides payment assistance for patients
who are facing financial difficulties. To discuss
your options, please call us toll-free at
+1 855-293-2639, option 4.
5230 S. State Road, Ann Arbor, MI 48108
Tel +1 855-293-2639
progenity.com
Progenity is a CLIA-licensed clinical laboratory and
is accredited by the College of American Pathologists
(CAP). The information contained in this brochure is
provided by Progenity as an educational service for
physicians and their patients.
© 2013 Progenity, Inc. All rights reserved.
Progenity TM is a trademark of Progenity, Inc.
REV 072013

Download Report