Genetics in real life and the clinic Flashcards
1
Q
What is symptomatic testing?
A
When you test to find the cause of ideas in a person.
If you find a mutation - confirms diagnosis, allows to test other family members
If no mutation - patient still has disease, have to treat them symptomatically
Filter out - known polymorphisms etc
2
Q
What is pre-symptomatic testing?
A
Patient has a relative with a known mutation
Patient wants to know if they have it
3
Q
What test would you do for huntington’s disease?
A
PCR
