Methods Flashcards
1
Q
biochemical testing for inborn errors in metabolism measures concentrations in either blood or urine samples of?
A
metabolite
enzyme
enzyme substrate
2
Q
what methods are used to detect large-scale chromosomal abnormalities?
A
fluorescence in-situ hybridization
polymerase chain reaction (PCR)
comparative genome hybridization (CGH)
FISH
3
Q
what does denaturing high performance liquid chromatography (DHPLC) detect?
A
polymorphisms and SNPs
4
Q
what is the purpose of reverse transcriptase-polymerase chain reaction (RT-PCR)?
A
to determine whether a particular type of mRNA is present
