Some patients with combination of signs and symptoms are difficult to pinpoint a potential diagnosis by clinician.
It is estimated that most of the disease-causing mutations are located within the exons. WES is an extensive genetic tests that looks at more genes than most genetic tests. It examines all the protein coding regions in the genome (exons) simultaneously, may help clinicians to find out disease causing variants in genes that would be missed in other testing.
When to consider WES
- With atypical clinical phenotypes or symptoms.
- With clearly genetic disease, but previous genetic testing result showing negative.
- Congenital defects/dysmorphism.
- Other congenital anomalies with unknown cause.
GGA WES Key features
The benefits of WES
- High diagnostic yield in a single test.
- Cost-effective and shorter time to results compare to WGS (Whole Genome Sequencing).
- Determine what medication and dosage will be most effective and beneficial for patient.
- Evaluate the risk of certain disease to patient’s family or next child.