Exam 16: Genetic and Genomic Testing

Genetic testing of an asymptomatic woman whose sister is positive for the mutation that is responsible for an autosomal-dominant disorder that has a 70% penetrance ratewould fall into which testing category?

Which genetic-based disorders can be initially identified by the most common types of newborn blood screening? Select all that apply.

Under which condition can preimplantation genetic testing be performed?

How is cell-free DNA (cdDNA) testing being used clinically?

How is the polymerase chain reaction (PCR) helpful in the process of genetic testing?

A woman whose sister tested positive for a specific mutation in the BRCA1 gene, which increases the risk for breast and ovarian cancer, is found not to have that mutation but does have a mutation of unknown significance near the known mutation site. How should this woman be counseled?

What type of genetic test provides information about an asymptomatic person's risk for having a child with a specific autosomal-recessive disorder in the future?

Which tissue is most likely to provide an adequate DNA sample for genetic testing?

Genetic testing that examines an asymptomatic person's DNA sequence, looking for mutations that increase a person's susceptibility to a disease, is an exampleof whichtype of testing?

What is the major disadvantage to the fluorescence in situ hybridization (FISH) method of genetic testing?

Which type of genetic testing examines a person's chromosomes for variations in number or structure?

A patient is 34 years old and concerned about possibly being a carrier for HNPCC because his father died of colon cancer at 39, his father's sister died of colon cancer at age 41, and his brother (aged 37) now has colon cancer. The brother's testing is negative for all the known mutations associated with inherited forms of colon cancer. How should this patient be counseled about his risk for colon cancer?

Which type of genetic testing is the most sensitive method for detecting any mutation in a specific gene?

When is fluorescence in situ hybridization (FISH) most likely to be used?