PATH3305 > Testing methods > Flashcards

Testing methods Flashcards

(23 cards)

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1
Q

Karyotyping

A
  • Large structural changes
  • Balanded changes (translocations, insertions, inversions, rings)
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2
Q

Examples of large structural changes

A

Aneuploidies, translocations, isochromosomes, CNVs

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3
Q

Resolution of karytopying

A

5-10 Mb

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4
Q

Clinical indication examples for karyotyping

A
  • Chromosome syndrome
  • Infertility
  • Rule our structural variant after microarray finding
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5
Q

FISH

A
  • Aneuploidies, CNVs, Translocations, inversions, insertions
  • Probes must be designed for specific aberration
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6
Q

Resolution of FISH

A

50k - 1Mb (most 200-400kb)

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7
Q

Clinical identification examples of FISH

A
  • Prenatal aneuploidy
  • Follow up after abnormal karyotype
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8
Q

SNP array

A
  • Copy number changes associated with unbalanced structural changes
  • Regions of homozygosity
  • Uniparental disomy
  • Mosaicism
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9
Q

Resolution of SNP array

A

10-100 kb

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10
Q

Clinical identification examples of SNP array

A
  • Congenital abnormalities
  • Intellectual disability
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11
Q

MLPA, real time PCR

A

Deletions or duplications

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12
Q

Resolution of MLPA, real time PCR

A

Exon level

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13
Q

Clinical identification examples of MLPA, real time PCR

A
  • 22q11.2 deletion
  • Pathogenic partial deletion of IL1RAPL1
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14
Q

NGS panel or exome

A
  • SNVs, indels, copy number changes
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15
Q

Resolution of NGS panel or exome

A

Single nucelotide

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16
Q

NIPS

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A

Chromosomal aneuploidies and recurrent deletion/duplication syndromes

17
Q

NIPS resolution

18
Q

Sanger sequencing

19
Q

Resolution of sanger sequencing

20
Q

Repeat primed PCR

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A

Repeat expansions

21
Q

Resolution of repeat primer PCR

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A

quantify 1-220, detect up to 1000 repeats

22
Q

MS-MLPA and MS-qPCR

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A

Deletion, UPD

23
Q

Resolution of MS-MLPA and MS-qPCR

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