Genetic Testing Flashcards
What are the types of genetic test
Genetic conditions
Familial relationships
Determine identity
What does chromosome abnormalities analysis test for
Abnormalities of chromosome number
Abnormalities of chromosome structure
What does chromosomal microarray analysis test for
Abnormalities in chromosome number
Chromosome microdeletions/duplications
What does FISH test for
Abnormalities of chromosome number
Chromosome microdeletions/duplications
What does single gene sequencing test for
Single nucleotide changes
What does deletion/duplication analysis test for
Whole or partial deletions and duplications
What does targeted mutation analysis test for
Single nucleotide changes
What does multi-gene panels test for
Single nucleotide changes
What does whole exome/genome sequencing test for
Single nucleotide changes
What are the two main testing devices
Sanger sequencing
Next generation sequencing
How does sanger sequencing work
Uses PCR amplify regions of interest followed by sequencing of products
Useful for single gene testing
How does next generation sequencing work
Can sequence whole genome in one day
Multi-gene panels, whole exome/genome
Describe the benefits and negatives of Sanger
Single start point (primer)
Single DNA fragment sequenced
High cost per gene
Time consuming
Simple analysis (read the sequence)
Very accurate
The gold standard
Describe the NGS benefits and negatives
Library of DNA fragments
Massively parallel sequencing
Lost cost per gene
Fast
Huge amounts of raw data to interpret
Moderately accurate
