12.1 Genetic Testing Old&New Flashcards

1
Q

how to test for chromosomal disorders?

A
Karyotype
FISH
chrimosome microarray (CMA)
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2
Q

how to test for single gene disorders

A
  • triplet repeat disorders
  • sanger sequencing
  • next gen’'’sequencing
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3
Q

karyotyping can only detect changes in genes of what size

A

5-10 megabases

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4
Q

how to detect 22q11 deletion?

A

FISH

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5
Q

22q11 features?

A

subtle facial similarities
congenital heart disease
cleft palate

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6
Q

FISH limitations?

A

deletion size is inferred, not measured

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7
Q

if you want to order FISH?

A

talk to lab first

need to specify diagnosis in question

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8
Q

what is the “usual’’ DNA test we do

A

chromosome microarray (CMA)

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9
Q

use the CMA test if you are inquiring about?

A
  • Intellectual disability
  • multiple congenital anomalies
  • dysmorphism
  • austistic spectrum
  • psychiatric
  • epilepsy phenotypes
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10
Q

how to appraoch a VOUS? (variants of unknown significance)

A
  • in 5-7% of all CMA tests
  • NOT a dx
  • if inherited from clinically normal parents, likely benign
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11
Q

What to do with VOUS?

A

Test the parents,
review phenotype,
Do they have the same copy variations?

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12
Q

What does CMA NOT detect?

A
  • reciprocal trans locations
  • repeat expansions
  • not a gene sequencing
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