Whole Exome Sequencing (WES)
WES analyses most protein-coding regions of the genome, known as exons. It can be useful when a person’s features may be explained by changes in many different genes or when earlier targeted testing has not provided an answer.
When WES May Be Considered
- Developmental delay, intellectual disability, epilepsy, or congenital differences with an uncertain cause.
- A suspected inherited disorder with genetic heterogeneity.
- A complex presentation that does not fit a single targeted test.
Individual and Family Testing
Testing may be performed for one person or as a trio with biological parents. Parental samples can help determine whether a variant was inherited or arose de novo and may improve interpretation.
Important Limitations
WES does not reliably detect every genetic change. Some non-coding variants, repeat expansions, structural variants, mosaic changes, mitochondrial variants, or poorly covered regions may require another method. A negative result does not exclude a genetic condition.
Testing at Jaipur Molecular Lab
Contact our team to confirm sample requirements, whether parental samples are recommended, the reportable variant classes, and the expected reporting timeline.
This information is for general education and does not replace medical advice. Test selection and interpretation should be discussed with a qualified clinician or genetic counsellor.