samples Flashcards
the analysis starts and ends with what
the patient
how many people have a rare disease most of which are genomic
1 in 17
how many people will get cancer
1 in 3
what do you need to take into account when taking samples from patients for analysis
what the patient has consented to
you need to decide whether to extract DNA/RNA/chromosomes or all
T
if you know where the mutation is what analysis an you do
direct mutation test
what other analyses can you do other than direct mutation
generic mutation detection
linkage
what does preimplantation genetic diagnosis involve
checking the genes or chromosomes of your embryos for a specific genetic condition
cell free foetal DNA can be tested what is this
genetic material that is released by the placenta and circulates in a woman’s blood during pregnancy.
chrorionic villus sampling involves taking samples from what
tissues of the placenta
what is done during amniocentesis genetic testing
small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing foetus
placental biopsy can also be used to obtain samples
T
the blood remaining in the umbilical cord can be used for a genetic test. this is called
cord blood testing
which sample is taken from every child to screen for 9 conditions
dried blood spot
CVS involves a fine needle being passed through the abdomen to collect cells from the placenta. this has a miscarriage rate of…
1 in 100
