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CLASP: Sudden Death > DNA Analysis > Flashcards

Flashcards in DNA Analysis Deck (7)
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1
Q

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

A

Next generation sequencing

2
Q

How does next generation sequencing work?

A

DNA is sectioned into parts

Each part is sequenced and compared to reference DNA

3
Q

What are the three main types of genetic changes?

A

Disease-causing mutation
Polymorphism
Variant of unknown significance

4
Q

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

A

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

5
Q

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

A

Exon

Stop codon

6
Q

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

A

Phenotype - test based on presenting complaint

7
Q

What suggests that a disease is genetic?

A

Has syndromic features

Family history of similar presenting complaint