DNA Analysis

Question 1

What genetic test should be used to check more than one gene?

Answer 1

Next generation sequencing

Question 2

How does next generation sequencing work?

Answer 2

DNA is sectioned into parts

Each part is sequenced and compared to reference DNA

Question 3

What are the three main types of genetic changes?

Answer 3

Disease-causing mutation
Polymorphism
Variant of unknown significance

Question 4

How can one filter genetic changes to find a causative mutation?

Answer 4

Ensure change is in correct gene
Ensure change should affect gene
Ensure change is not listed as a polymorphism

Question 5

A change in which part of DNA is more likely to cause a genetic disease?

Answer 5

Exon

Stop codon

Question 6

How do you know which genes are important for your patient?

Answer 6

Phenotype - test based on presenting complaint

Question 7

What suggests that a disease is genetic?

Answer 7

Has syndromic features

Family history of similar presenting complaint