Lecture 2 Flashcards
What is molecular testing?
analysis of the DNA for the identification of genetic causative factors
What is the utility of molecular testing?
useful for diagnosing, classification, prognosis, and monitoring of the disorder
What are the main issues related with genetic analysis?
private data, personal familiar information, ethical issues
When is a genetic test useful?
when there are mendelian disorders, susceptibility genes, chromosomal abnormalities, carrier screening analysis
How many genetic tests are available?
pre-natal: circulating fetal DNA, pre-implantation genetic diagnosis (PDG), amniocentesis, chorionic villi analysis
post-natal: newborns, adult, healthy carriers
How many genetic testing approaches are possible?
there is not a direct number
the test can be focused on targeted genes or whole genome
What is the workflow in the molecular diagnostic process?
patient
clinical evaluation
collaboration between clinician and medical geneticist for the genetic counseling
lab
geneticist
clinician
patient
What is genetic counseling?
multidisciplinary process involving patients, clinician and/or geneticist
What is the most important step in genetic counseling?
informed consent
Why is informed consent important?
informed choice of the patient
obtaining info about the inheritance of the disorder and reoccurrence of the disease in the family to identify other family members at risk
What are the biological samples used?
peripheral blood
saliva
amniocytes or chorionic villi
tissues, bone, teeth (rare)
What tube is used for peripheral blood analysis?
EDTA, the purple one
