Unlocking Mysteries of Rare Disease with Diagnostic Exome Sequencing
What is diagnostic exome sequencing?
Everyone has changes in their exons, and that’s what makes us unique. However, some
changes (called mutations) can cause our bodies not to work properly and lead to
medical problems. Sequencing an exome means looking from start to ﬁnish in the exons
for any mutations that might be the cause for the medical problem(s) someone has.
About Ambry Genetics
Ambry Genetics is committed to providing
friendly, knowledgeable client services and high
quality research and development in a cutting-
edge environment. Since our founding in 1999,
our test menu has grown to become one of the
most comprehensive in the world and our
reputation remains impeccable in the genetics
industry. We remain dedicated to supporting and
working with advocacy groups, like the Batten
Disease Support and Research Association, in
their work to improve the lives of individuals and
families with this condition disease.
What is an exome?
What results could someone
get?Why are families included in diagnostic exome
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Each of us has about 20,000 genes (called the genome), organized into structures
called chromosomes. We have a complete set of all these genes in every cell in our
bodies. We inherit one copy of most of our genes from our mother and our father.
Every gene can be divided into two parts: the exons and the introns.
Exons are the main areas of the genes that tell our bodies how to work. The exome is
the combination of all exons in our genes, and represents only about 1-2% of our
genetic information. This helps sort through the all
the genetic changes that are common in that
family, in order to ﬁnd the one (or ones) that may
be causing medical problems. Somene can still
have this testing without including family members,
but this lowers the chance of ﬁnding the answer.
Diagnostic exome sequencing is
most powerful when it
compares the genetic
information of the person being
tested to their family members’
Diagnostic exome sequencing is done using a blood sample from the person being
tested and their family members (usually parents and brothers/sisters). A doctor or
genetic counselor can help ﬁgure out which family members are best to include for
testing. The person's genes are then studied and compared with his/her family
members’ genes, to look for the cause of the person’s medical problems.
Positive A mutation was found that is known to be
associated with someone’s medical condition
A mutation was found in a gene that most likely
causes someone’s medical condition
Uncertain A change was found but it is not clear if this is
the cause of someone’s medical concerns
Negative The underlying cause of someone’s medical
concerns has not been found