Clinical genetics

Question 1

Direct testing

Answer 1

• sample is tested for presence of a certain genotype
• only one individual is tested and abnormality that is being sought is already known to have an association with the illness studied

Question 2

Gene tracking

Answer 2

• many family members are tested to discover whether or not the suspected patient seeking the test has inherited the high-risk chromosome from a heterozygous parent
• test is based on Mendelian principles and seeks information about the segregation of a chromosome within a family
• it can be used even if the exact gene locus associated with a disease is unknown

Question 3

Prenatal identification

Answer 3

• prenatal test is the test of a fetus to identify a suspected genotype
• it is often initiated on basis of family history or maternal factors
• maternal serum screening to identify neural tube detects and Downs is offered routinely
• however, adult onset genetic conditions are not usually tested prenatally

Question 4

Genetic counseling

Answer 4

• routinely offered to individuals seeking genetic tests
• counselling service provides information about risks and probabilities before the test and also provides support services after testing

Question 5

DNA banks

Answer 5

-provide secure long term storage for an individual’s genetic material