Genetic Testing Flashcards

1
Q

What are the types of genetic test

A

Genetic conditions

Familial relationships

Determine identity

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2
Q

What does chromosome abnormalities analysis test for

A

Abnormalities of chromosome number

Abnormalities of chromosome structure

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3
Q

What does chromosomal microarray analysis test for

A

Abnormalities in chromosome number

Chromosome microdeletions/duplications

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4
Q

What does FISH test for

A

Abnormalities of chromosome number

Chromosome microdeletions/duplications

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5
Q

What does single gene sequencing test for

A

Single nucleotide changes

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6
Q

What does deletion/duplication analysis test for

A

Whole or partial deletions and duplications

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7
Q

What does targeted mutation analysis test for

A

Single nucleotide changes

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8
Q

What does multi-gene panels test for

A

Single nucleotide changes

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9
Q

What does whole exome/genome sequencing test for

A

Single nucleotide changes

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10
Q

What are the two main testing devices

A

Sanger sequencing

Next generation sequencing

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11
Q

How does sanger sequencing work

A

Uses PCR amplify regions of interest followed by sequencing of products

Useful for single gene testing

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12
Q

How does next generation sequencing work

A

Can sequence whole genome in one day

Multi-gene panels, whole exome/genome

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13
Q

Describe the benefits and negatives of Sanger

A

Single start point (primer)

Single DNA fragment sequenced

High cost per gene

Time consuming

Simple analysis (read the sequence)

Very accurate

The gold standard

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14
Q

Describe the NGS benefits and negatives

A

Library of DNA fragments

Massively parallel sequencing

Lost cost per gene

Fast

Huge amounts of raw data to interpret

Moderately accurate

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