GS - Huntingtons

Question 1

What is the genetic defect in Huntington’s ?

Answer 1

Trinucelotide expansion in the coding region of one copy of the patents Huntington’s genes

Question 2

Why is Huntington’s pathological ?

Answer 2

Genetic changes results in a protein with increased tendency to aggregate in a manner which is neurotoxic

Question 3

What is the minimum age for testing ?

Answer 3

Age of Majority

Question 4

What is the recommended time that should elapse between the first discussion with a gent counsellor about a test and the decision whether to take the test ?

Answer 4

At least 1 month

Question 5

If someone decides to take the test, had a sample taken but changes their mind are they obliged to receive the results?

Answer 5

No

Question 6

What is pre-implantation genetic diagnosis?

Answer 6

A technique used to identify genetic defects in embryos created through in vitro fertilisation (IVF) before pregnancy

Question 7

Is it possible for families to have children who do not carry any risk of Huntington’s disease finding out their own genetic status?

Answer 7

Yes