Testing methods Flashcards
Karyotyping
- Large structural changes
- Balanded changes (translocations, insertions, inversions, rings)
Examples of large structural changes
Aneuploidies, translocations, isochromosomes, CNVs
Resolution of karytopying
5-10 Mb
Clinical indication examples for karyotyping
- Chromosome syndrome
- Infertility
- Rule our structural variant after microarray finding
FISH
- Aneuploidies, CNVs, Translocations, inversions, insertions
- Probes must be designed for specific aberration
Resolution of FISH
50k - 1Mb (most 200-400kb)
Clinical identification examples of FISH
- Prenatal aneuploidy
- Follow up after abnormal karyotype
SNP array
- Copy number changes associated with unbalanced structural changes
- Regions of homozygosity
- Uniparental disomy
- Mosaicism
Resolution of SNP array
10-100 kb
Clinical identification examples of SNP array
- Congenital abnormalities
- Intellectual disability
MLPA, real time PCR
Deletions or duplications
Resolution of MLPA, real time PCR
Exon level
Clinical identification examples of MLPA, real time PCR
- 22q11.2 deletion
- Pathogenic partial deletion of IL1RAPL1
NGS panel or exome
- SNVs, indels, copy number changes
Resolution of NGS panel or exome
Single nucelotide
NIPS
Chromosomal aneuploidies and recurrent deletion/duplication syndromes
NIPS resolution
Variable
Sanger sequencing
SNVs
Resolution of sanger sequencing
1bp
Repeat primed PCR
Repeat expansions
Resolution of repeat primer PCR
quantify 1-220, detect up to 1000 repeats
MS-MLPA and MS-qPCR
Deletion, UPD
Resolution of MS-MLPA and MS-qPCR
Exon level
