Clinical

Whole Exome Sequencing Services

Whole exome sequencing looks at genetic variants to determine or identify the reasons for a patient’s genetic disorder or predisposition to certain genetic disorders. From there, physicians can use information gained from whole exome sequencing to create a patient’s treatment plan going forward.

What Is Whole Exome Sequencing?

virtual data showing from touching the tablet

Each person’s DNA is broken up into about 3 billion nucleotides, which are the building blocks of a person’s genetic code. Exons are the pieces of a person’s DNA that make—or code—proteins. When put all together, these exons are known as the exome, which takes up just 1 percent of a person’s entire genome.

Whole exome sequencing is a targeted laboratory approach that makes it possible to identify variations in the protein-coding part of a selected gene. This can be especially valuable because most known genetic variants actually occur in exons.  With whole exome sequencing, a patient’s DNA is mapped out, and specific genetic mutations and disease-causing variants are identified.

Whole exome sequencing looks at genetic variants to determine or identify the reasons for a patient’s genetic disorder or predisposition to certain genetic disorders. For example, if a patient is experiencing signs and symptoms of a genetic disorder, whole exome sequencing could identify the possible variants that could be contributing to these symptoms, as well as other genetic issues such as how a patient reacts to a certain medication.

Whole exome sequencing can give physicians a clear idea of how a patient is affected by certain genetic disorders or predispositions. From there, physicians can use information gained from whole exome sequencing to create a patient’s treatment plan going forward.

Benefits of Whole Exome Sequencing

Early detection of genetic disorders or predispositions is extremely important—and whole exome sequencing can help prevent health issues before they even happen. Because many genetic disorders don’t show symptoms for years to come, a patient might not even be diagnosed with the disorder or a predisposition for it.

For example, whole exome sequencing can reveal if a patient is predisposed to diabetes, and the patient can take steps to improve their lifestyle to prevent a diabetes diagnosis down the line.

Whole exome sequencing can also be extremely cost-effective for patients. Other methods of DNA sequencing are more time-consuming for lab technicians. Whole exome sequencing takes less time to complete, as it targets specific nucleotides found in the exome. This is much more cost-effective than focusing on the entire genome, which is involved in whole genome sequencing.

Whole exome sequencing can be extremely valuable for patients, but it can also be valuable for researchers. For example, whole exome sequencing can identify if certain genetic variations are associated with certain health issues. This can help improve patient diagnosis in years to come.

The main goal of whole exome sequencing is identifying molecular diagnosis for patients who know or suspect they have a genetic disorder. Because whole exome sequencing targets the part of the genome that typically contains a large portion of known disease-related variants, it can quickly and cost-effectively identify a patient’s potential variants.

Whole exome sequencing holds many benefits for patients, hospitals, and clinics:

  • Provides a better understanding of patient health history and diagnosis
  • Identifies rare genetic variations such as genetic disorders
  • Tests at-risk family members to identify the presence of disease
  • Can be more cost-effective than whole genome sequencing
  • Identifies and assesses the risk of recurrence
  • Helps inform reproductive decisions

Workflow

Psomagen Inc. offers optimized, wide-ranging enrichment methods, sequencing platforms, and sequencing coverage available. These methods provide patients, hospitals, and clinicians with cost-effective, easy-to-understand whole exome sequencing data.

Enrichment methods

  • Agilent SureSelect Exome Capture

Sequencing platforms

  • NovaSeq6000 (Illumina)
  • HiSeq2500 (Illumina)

Sequencing coverage

  • Minimum of 50X with no maximum

Inquire About Our Exome and Targeted Genome Services