Quiz Questions - Review Q2 Flashcards
What is the purpose of cytogenetic studies?
To identify large duplications & deletions of genetic information
When is Sanger sequencing the ideal test?
Identify mutations in single gene disorders in a clinical setting
What is one purpose of Genome Wide Association Studies?
Identify single nucleotide polymorphisms (SNP’s) that maybe associated with multifactorial diseases
How is biochemical testing utilized to make a diagnosis?
Evaluation of specific analytes that can be abnormal in specific genetic conditions
(T/F) Genetic testing can identify the mutation in all known genetic conditions?
False
Genetic diagnosis is performed on the _____ in preimplantation genetic diagnosis?
Blastocyst
Prenatal screen tests are used to ______
Identify a fetus that may have a genetic condition
An indication for referral for a pediatric evaluation includes:
- Family history of a genetic condition
- Developmental delay
- Major & minor birth defect
(T/F) Sporadic and inherited cancer are both caused by genetic mutations
True
What is a limitation of a positive result?
May not be useful to predict the severity of the disease
What are the limits of a negative genetic test in an unaffected person with no known mutation in the family?
- They may not have been tested for the right gene that is in the family
- They may not have inherited the familial mutation
- The testing methodology may have missed the mutation
What genetic test result is the easiest to apply in a clinical setting?
Positive
What can a consumer expect when they purchase Direct to Consumer genetic testing?
DNA sequencing for a unique set of markers that are determined by the company
What is one concern about genetic testing provided by Direct to Consumer testing companies
A healthcare provider is not involved to assist in interpreting the results
Y chromosomes analysis is helpful to explore what part of an individual’s genetic background?
Their paternal background
