What is Whole Exome Sequencing?
WES reads the protein-coding portion of all genes at once and is used when a single-gene condition is suspected.
The exome is roughly 1–2% of the genome but contains the majority of known disease-causing variants. Whole Exome Sequencing reads all of it in a single test.
It is typically ordered when the ultrasound shows features suggesting a single-gene disorder and the microarray is normal.
Points to understand before testing
- Testing parents alongside the fetus (trio testing) greatly improves interpretation
- Results may include variants of uncertain significance
- A normal result does not exclude every genetic condition
- Incidental findings unrelated to the pregnancy are possible and are discussed in advance
This page is general information and is not a substitute for a consultation. Every pregnancy is assessed individually.
Continue reading.
Most pregnancy complications are not anyone's fault. Understanding the underlying cause is the first step towards answers.
Recurrence risk depends entirely on the underlying mechanism — which is why finding the cause matters so much.
Genetic testing is not routine for everyone. It is indicated when the result would change diagnosis, management or future planning.
Bring your reports. We'll find the cause together.
Consultations at Apollo Cradle, Apollo Fertility, AIFMRG and Epic International, Hyderabad.