Genetic testing and medical diagnostics Flashcards
More than _____ human gene tests are in diagnostic use.
900
It is becoming increasingly prevalent to
directly examine an individual’s DNA for mutations associated with disease.
Genetic tests are used for
prenatal, childhood, and adult prognosis and diagnosis of genetic diseases.
A prognostic test
predicts a person’s likelihood of developing a particular genetic disorder.
A diagnostic test
for a genetic condition identifies a particular mutation or genetic change that causes the disease or condition.
Can also test for
‘carriers’.
These tests usually detect
gene alterations associated with single-gene disorders inherited in a Mendelian fashion.
Examples include
sickle-cell anemia, cystic fibrosis, Huntington disease, hemophilia, and muscular dystrophy.
Also for more complex disorders like cancer.
Sampling for DNA testing are from white blood cells and cheek (buccal) swabs, hair cells or from gametes.
Results using either method are exactly the same (genomic DNA).
Prenatal genetic tests are used for
certain disorders in which waiting until birth is not desirable
For prenatal testing, fetal cells are obtained by
amniocentesis (fetal cells from amnionic fluid is harvested) or chorionic villus sampling (CVS – cells from the fetal part of the plasenta wall are collected by suction).
Captured fetal cells can then be
subjected to genetic analysis by techniques that involve PCR (such as allele-specific oligonucleotide testing, or sequencing.
More genetic testing has been used to detect genetic conditions in babies than in adults.
About 60 conditions that can be detected, although not all use DNA-or RNA-based genetic tests – some test for proteins or other metabolites.
Approx. _____ of the DNA in a pregnant mother’s blood belongs to the fetus.
3-6 %
Approx. 3-6 % of the DNA in a pregnant mother’s blood belongs to the fetus.
These are called cell-free DNA (cfDNA) and…
can be extracted and analyzed for genetic conditions such as Down syndrome (MarteniT® 21PLUS).
WGS of maternal blood-plasma cfDNA can be used to accurately sequence the entire exome of a fetus.
Deducing fetal genome sequences from maternal blood – haplotype analysis (contiguous DNA fragments that do not undergo recombination during gamete formation).