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 sequencing?

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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 genome.

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.

Result Meaning

Positive A mutation was found that is known to be associated with someone’s medical condition

Likely Positive

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