Whole Genome Sequencing WES
- Whole Exome Sequencing (WES) analyzes the protein-coding regions of a patient’s DNA, known as exons. This single test allows us to examine thousands of genes simultaneously, enabling the quick and accurate identification of changes associated with medical conditions. As a result, WES facilitates prompt and dependable diagnoses.
- Symptoms are complex or non-specific with a wide range of phenotypic features.
- Symptoms or family history suggest a genetic cause for the disease.
- Cases in which late differential diagnosis has a significant negative impact on the patient’s quality of life.
- In some cases it often does
An incremental diagnostic strategy increases costs and time significantly. - The doctor cannot make any reasonable diagnosis based on the apparent symptoms.
- To confirm a particular diagnosis in individuals suspected of having a particular disease or genetic disorder.
- when there is no other alternative technique to confirm the diagnosis.
- Couples who want to have children and have a family history of genetic diseases.
Couples who are related to each other. - Couples who want to ensure the birth of a healthy child free of genetic disorders.