Whole Exome Sequencing FAQ

What is Exome Sequencing?

Also known as whole exome sequencing, targeted exome capture or next gen sequencing, exome sequencing looks at the protein coding regions of the human genome known as exons. There are about 180,000 exons in the human genome and it is estimated that 85% of the disease-causing mutations can be found in these regions.

What is the difference between whole genome AND whole exome sequencing?

While whole exome sequencing looks at the exon regions of the genome, whole exome sequencing looks at both the exons and introns covering the entire genome. Only about 15% of disease-causing mutations can be found in the introns.

Will exome sequencing detect mitochondrial diseases?

Mitochondrial diseases can be caused by mutations in either the mitochondrial genome (a small circular chromosome found within the mitochondria) or by mutations in the nuclear genome (on the chromosomes found in the nucleus). Whole exome sequencing is typically done in such a way that only the exons in the nuclear genome are captured and sequenced, and thus, will only identify some of the mutations associated with mitochondrial disease.

I read that you have to be a US resident, are there any exceptions to this requirement?

We have now opened up the giveaways to individuals outside the US. As long as there is an ordering physician.

How many families will be accepted?

SWAN USA is currently working with different partners to provide these opportunities. The number of families accepted will vary depending on the availability.

Is there a timeline for results?

Timelines may vary depending on the specific opportunity.

 Is this a research study?

No, this is a clinical test done by an ordering physician of your choice.


What is the difference between clinical and research testing?

  Clinical Exome Sequencing Researched-Based Exome Sequencing
Available -Commercial laboratories

-Few labs are offering this test

-Universities or Research Facilities
-Few locations
-Often difficult to find programs
Cost -May be covered by insurance
-Will cost patients if insurance doesn’t cover
-Minimal to no cost

-Cost is often covered by the research program grant

Criteria -Can get testing with any doctors request
-Available to anyone
-Need an ordering physician
-Have to meet certain criteria in order to be accepted
-Will have to be referred by physician
Travel -No travel -May have to travel to program
-Program may or may not cover cost to travel
Results -Quicker to provide results
-Not sure if variants of unknown significance would be provided
-Will only show known causative mutations
-Not required to provide results
-Will continue to analyze variants of unknown significance
-Will continue to determine the connection of variant mutation to clinical presentation

Leave a Reply

Your email address will not be published. Required fields are marked *

You may use these HTML tags and attributes: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <strike> <strong>