Topic
Genetic Testing & Family Screening
How monogenic diabetes is confirmed, and what a diagnosis means for family members.
What Genetic Testing Involves
The test itself is far less dramatic than it sounds — usually a single blood sample. Here is what happens to it, and what comes back to you.
Genetic Testing in India
Cost and awareness are the two real barriers to a monogenic diagnosis in India. Here is how to approach actually getting the test done for you.
Understanding Your Report
A genetic report is not a simple yes or no. Here is what pathogenic, likely pathogenic and variant of uncertain significance actually mean.
Cascade Testing: Telling Your Family
A confirmed result is information your relatives need. Each child of an affected parent has a 50% chance, and testing them is far simpler.
Testing Children: When and Whether
Testing a healthy child for a variant that you carry is a genuine decision, not an obvious yes. Here is what tips it in one direction or another.