Unlocking Genetic Insights with Whole Exome Sequencing (WES)

WES: The First Step in Solving Undiagnosed Genetic Disorders What is Whole Exome Sequencing (WES)?

WES is a genomic sequencing technique that analyzes the exome, which consists of the protein-coding regions of the genome. These regions contain the instructions for building proteins and are where most known genetic disorders are caused. By examining these regions, WES can identify mutations that might be responsible for a patient’s symptoms, especially in cases where traditional diagnostic methods have not yielded a result.

How WES Works:

Sample Collection: DNA is extracted from a patient’s blood or saliva sample.
Exome Sequencing: The exonic regions of the genome are sequenced using advanced technology.
Data Analysis: The resulting data is analyzed to identify genetic mutations that may be linked to the patient’s condition.

WES is highly recommended for index children—the first child in a family to be diagnosed with a suspected genetic disorder—because it provides valuable insights that can guide further treatment and family planning decisions.

Targeted Mutation Analysis (TMA) Post-WES: A Key Follow-Up What is Targeted Mutation Analysis (TMA)?

After WES identifies potential genetic mutations, the next step is often Targeted Mutation Analysis (TMA). TMA involves a more focused examination of specific regions of the genome that were flagged by WES, allowing for a deeper investigation into these areas of interest.

TMA is particularly useful in confirming the genetic variants identified during WES and can help determine if these mutations are responsible for the patient’s condition. This follow-up step ensures a more precise and reliable diagnosis, particularly in complex cases where multiple mutations may be involved.

When Is TMA Recommended?

When WES results point to potential genetic mutations, but further confirmation is needed.
For inherited disorders, where mutations need to be validated across multiple family members.
If the initial WES results are inconclusive, TMA can help pinpoint the exact genetic cause.

Interested in learning more or getting tested?

Contact our clinic to learn more about Whole exome sequencing and book your screening appointment.

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