Testing Flashcards
NGS targeted sequencing used in
children w common genetic diseases (cardiomyopathy and congenital deafness) (one gene or panel of genes), or to perform tumor profiling (detect tumor mutations at low allelic %).
RNA analysis to detect
- HIV and hepatitis C
- cancers w chorom translocations
NGS whole genome sequencing used in
lung cancers: when mutation not in exome, but suspicion of dis remains high
genome wide assoc studies (GWAS) uses
large cohorts of patients with and without a disease (rather than families) are examined across the entire genome for common genetic variants or polymorphisms that are overrepresented in patients with the disease.
PCR used to dx
fragile X synd
PCR pyrosequencing used to dx
cancers (particular seq variants)
PCR amplicon length analysis used to dx when
mutations affect the length of DNA (trinucleotides)
FISH used to dx
- Trisomy 21: see 3 red dots
- Chromo 22q11.2 deletion synd
- HER2 in bc
- NMYC in neuroblastomas
- (any aneuploidy or complex translocations or gene amplification)
- useul when need results right away
southern blotting used to dx
lg trinuc expansion dis’s (fragile X)
PCR single-base primer extension used to dx when
the mutation is at a specific nucleotide potision
SNP genotyping arrays to ID
- SNPs
- CNVs when karyotype is normal but variation is still susprcted
- cancers (bc) w a specific molec microarray signature
- In uniparental disomy (PWS), SNPs in affected region are all homozygous
PCR restriction fragment length analysis used to dx when
the cause of the mutation is always at an invariant nuc position
Karyotype used for
cancer genetics, and in pts w neurocognitive impairment and/or congenital malformations
linkage analysis used to detect
genetic polymorphisms important in (stem cell)transplants(by looking for microsatellite markers in each), cancer genetics, paternity testing, forensics (bc can use degraded samples)
real time PCR used to
monitor the freq of blood or tissue of cancer cells bearing characteristic genetic mutations
