Testing methods Flashcards
1
Q
Karyotyping
A
- Large structural changes
- Balanded changes (translocations, insertions, inversions, rings)
2
Q
Examples of large structural changes
A
Aneuploidies, translocations, isochromosomes, CNVs
3
Q
Resolution of karytopying
A
5-10 Mb
4
Q
Clinical indication examples for karyotyping
A
- Chromosome syndrome
- Infertility
- Rule our structural variant after microarray finding
5
Q
FISH
A
- Aneuploidies, CNVs, Translocations, inversions, insertions
- Probes must be designed for specific aberration
6
Q
Resolution of FISH
A
50k - 1Mb (most 200-400kb)
7
Q
Clinical identification examples of FISH
A
- Prenatal aneuploidy
- Follow up after abnormal karyotype
8
Q
SNP array
A
- Copy number changes associated with unbalanced structural changes
- Regions of homozygosity
- Uniparental disomy
- Mosaicism
9
Q
Resolution of SNP array
A
10-100 kb
10
Q
Clinical identification examples of SNP array
A
- Congenital abnormalities
- Intellectual disability
11
Q
MLPA, real time PCR
A
Deletions or duplications
12
Q
Resolution of MLPA, real time PCR
A
Exon level
13
Q
Clinical identification examples of MLPA, real time PCR
A
- 22q11.2 deletion
- Pathogenic partial deletion of IL1RAPL1
14
Q
NGS panel or exome
A
- SNVs, indels, copy number changes
15
Q
Resolution of NGS panel or exome
A
Single nucelotide
