Whole Exome Sequencing by the Molecular Genetics Laboratory
Our lab offers ExomeSeq, a clinical whole exome sequencing test designed for patients with complex symptoms when targeted genetic tests are either unavailable or not cost-effective.
By using advanced next-generation sequencing technology and cutting-edge bioinformatics, our team of clinical and molecular geneticists delivers high-quality, clinically actionable results. Genetic counselors incorporate each patient’s unique clinical background to create a personalized report, tailored to their care needs.
What is Whole Exome Sequencing (WES)?
Whole Exome Sequencing (WES) is a powerful genetic test that looks at most of your genes—all at once. If you or your child have signs of a medical condition and previous tests haven’t explained why, WES may help uncover a genetic cause.
It’s one of the most comprehensive genetic tests available—and it could help guide care for your family.
What Does WES Look At?
Your DNA contains thousands of genes. These genes are like instructions that help your body grow and function. Most genes contain segments called exons—these are the parts that tell your cells how to build proteins.
WES focuses on those exons. That’s where many disease-causing changes are found.
Who Is This Test For?
WES is typically recommended for people who:
- Have unexplained medical symptoms that may have a genetic cause
- Have already had other genetic tests that didn’t find an answer
- Are working with a doctor or genetic counselor who suspects a rare condition
WES is not usually used for healthy people, or for people simply looking to learn about genetic risks.
What to Expect
- A small blood sample (usually about 1 teaspoon) is collected
- DNA is isolated and the exons of most genes are analyzed
- Your DNA is compared to reference data—and possibly to your family members’ DNA
- Results are reviewed and interpreted by a team of experts
What Can the Results Tell Me?
- A Positive Result: A genetic change is found that likely explains symptoms. This could influence medical care and help you understand the condition better.
- A Negative Result: No genetic cause is found—but that doesn’t rule out a genetic explanation. Science is still learning.
- An Uncertain Result: A change is found, but we don’t yet know if it causes disease. Your provider may recommend more testing or future follow-up.
How Often Does WES Find Answers?
About 1 in 4 patients who have WES get a genetic diagnosis. For some families, this brings relief, clarity, and a plan forward. For others, the test may not find a cause—but it still helps rule out certain conditions and guides next steps.
Limitations to Know
WES is one of the most advanced tools available, but it’s not perfect:
- It may miss certain types of mutations
- Some regions of the exome are hard to examine
- Our understanding of genes is still evolving
- It may reveal information you weren’t expecting
Understanding Secondary Findings
Sometimes, WES finds genetic changes not related to the reason for testing—but still important for health. These are called secondary findings.
Examples might include:
- Increased risk for certain cancers
- Heart conditions that can be monitored or treated
- Genetic traits that could affect your children
You can choose whether or not you want to receive this type of information before testing begins.
Privacy and Insurance
- Your privacy is protected under federal law. Employers and health insurance companies cannot discriminate based on genetic information (thanks to a law called GINA).
- However, life insurance and long-term care insurance companies are not covered under this law.
- Insurance coverage for WES varies. Our team will work with your insurance company to explore coverage before testing.
Unsure if WES is Right for You?
Talking with a genetic counselor is a key part of the process. They’ll help you understand:
- Whether WES is the right test
- What you can expect to learn
- How to handle secondary findings
- What the results mean for you and your family
If you are a patient or family member interested in learning more about WES or scheduling an appointment, please contact us.
