Optima WES FAQs

WES is a genetic test that reads the protein-coding parts (genes) of your DNA, called the exome, to look for changes that may explain a medical condition.

These regions make up only a small part of the genome, but they contain many of the genetic changes already known to cause disease.

WES looks for genetic variants in thousands of genes at the same time, rather than checking one gene at a time.

It is often used when doctors suspect a genetic condition, but the possible causes are broad or unclear.

Your doctor may recommend WES when symptoms could be caused by many different genes, when the medical picture is complex, or when earlier genetic testing did not find an answer.

Looking broadly across the exome (all genes) can sometimes help reach a diagnosis faster than step-by-step testing.

WES can be considered in pregnancy, childhood, or adulthood when there is concern for an underlying genetic condition.

It is especially useful when symptoms are unusual, affect multiple body systems, or do not clearly point to one specific diagnosis.

Yes, WES can be used during pregnancy in selected situations, especially when doctors are concerned that fetal findings may have a genetic cause.

The sample type is amniotic fluid collected through amniocentesis.

WES is performed on a DNA sample.

Depending on the situation, that sample may come from blood, a cheek swab, saliva for postnatal analysis, or amniotic fluid for prenatal analysis.

Comparing the patient’s DNA with biologically related family members can help the laboratory understand which genetic changes are more likely to matter.

This can improve interpretation and reduce the chance of unclear results.

Trio testing usually means testing the patient or the fetus together with both biological parents.

Many clinical labs prefer this approach because it increases the chance of finding the genetic explanation and decreases the chance of uncertain findings.

WES may return to a clinically relevant variant detected, a no clinically relevant variant detected, or variant of uncertain significance detected.

The report describes candidate-gene findings, as well as the secondary findings if opt in.

A clinically relevant variant result means the laboratory identified a genetic change that is known, or strongly believed, to explain the symptoms or diagnosis being investigated.

It can help guide medical care, follow-up, and testing for other relatives when appropriate.

A no clinically relevant variant result means the laboratory did not identified a clearly relevant genetic change based on current knowledge and the way the test was performed.

It does not always rule out a genetic cause, because some kinds of changes can be missed or may not yet be understood well enough to report.

A VUS is a genetic change that has been found, but there is not yet enough scientific evidence to know whether it is harmless or related to the condition.

In these cases, doctors may recommend looking at family members, reviewing symptoms again, or considering future reanalysis.

Secondary findings are genetic changes unrelated to the original reason for testing but associated with conditions for which medical management, screening, or treatment options are available, as recommended by the American College of Medical Genetics and Genomics (ACMG). Receiving these results is optional.

Turnaround time of the WES results may take 4-6 weeks.

The results are sent to the doctor who ordered the test.

They then review the findings with you and explain what they may mean for care, follow-up, and next steps.

Further to doctor’s counseling, genetic counseling by a specialist may be recommended according to the results.

No. WES can identify many genetic differences, but clinical reports do not list every variant because many are benign or non-clinical significant or unrelated to the reason for testing.

Reports usually focus on findings that are relevant, potentially relevant, or clinically significant.

Yes. WES does not capture every part of the genome perfectly, and it is mainly focused on coding regions rather than the full genome.

Some disease-causing changes can occur outside the exome or in regions that are technically difficult to analyze, so a no clinically relevant variant result does not fully exclude genetic condition.

WES reads the protein-coding parts of DNA (genes), while WGS looks at nearly all of a person’s DNA, including the noncoding regions.

Because many known disease-causing variants are in the exome, WES is often used as an efficient broad diagnostic test, while WGS offers a wider but more data-heavy view.

After results are issued, your doctor and/or genetic counselor will explain whether the findings answer the original question, whether more testing is needed, and whether the results matter for other family members.

In some cases, a future review of the data may be considered as scientific knowledge improves.

No. WES may not be the best choice if the condition is unlikely to be genetic or if doctors strongly suspect a single known gene that can be tested more directly.

The best test depends on the symptoms, family history, and what testing has already been done.

Genetic counseling helps families understand what the test can and cannot show, the possible results, and how those results might affect the patient and relatives.

It also supports informed consent and helps families make sense of uncertain or unexpected findings.