L21 Genetic Testing Flashcards
genetic testing is the ability to…
analyze DNA and RNA
genetic testing identifies specific genes associated with…
different genetic conditions
genetic testing detects…
gene alterations associated with single-gene disorders
gene tests are used for…
prenatal, childhood, and adult diagnosis
prognostic testing predicts…
likelihood of developing genetic disorder
diagnostic testing identifies…
mutation or genetic change that causes condition
there’s more genetic testing on babies than adults and all states require…
newborn screening
how many conditions can be detected with a few drops of blood from baby’s heel?
60
prenatal tests are not DNA/RNA based, they rather…
detect proteins or other metabolites
fetal cells are obtained by…
amniocentesis or chorionic villus sampling (CVS)
CVS uses cells from…
fetal portion of placental wall
noninvasive prenatal testing reduces risk to fetus and uses…
cell-free DNA (cfDNA)
what is cfDNA?
DNA in bloodstream released from dead or dying cells
cfDNA is cut into small fragments by…
enzymes in blood
blood of pregnant woman has snippets of…
cfDNA from fetus which can be tested for genetic conditions
DNA in blood is sequenced to analyze…
haplotypes - continuous segments of DNA
haplotype DNA do not undergo…
recombination during gamete formation
haplotype analysis distinguishes…
cfDNA between fetus and mother
haplotype DNA analysis will reveal if…
fetal haplotype has specific mutation
whole genome sequencing (WGS) of maternal plasma cfDNA is used to…
sequence entire exome of fetus
exome
all of the exons in a genome
MaterniT 21 Plus is a test for…
trisomy 13 and trisomy 18
Materni-T 21 Plus analyzes…
36 BP fragment of DNA to identify chromosome 21 from fetus
what were the first methods for genetic testing and is a primary method for detecting sickle-cell anemia?
restriction fragment length polymorphism (RFLP)
what % of mutations of point mutations are detected by RFLP analysis?
5-10%
unlike RFLP, allele-specific oligonucleotides (ASOs) detect…
single-nucleotide polymorphisms (SNPs)
ASO hybridizes with…
complimentary DNA only
ASO testing requires…
small amounts of DNA for analysis
ASO testing is ideal for…
preimplantation genetic diagnosis (PGD)
preimplantation genetic diagnosis (PGD) is a genetic analysis of…
cells from embryo created by IVF
