BASELINE test

Question 1

Ovarian, colorectal, endometrial, pancreatic, and gastric cancers can all be associated with Lynch syndrome.

Answer 1

True

Question 2

All Prequel results, both positive and negative, include an individualized patient risk assessment.

Answer 2

TRUE

Question 3

A negative result on a carrier screen with a very low detection rate will have little to no impact on the patient’s residual risk.

Answer 3

TRUE

Question 4

If a patient receives a positive result on the myRisk panel, there is a 50% chance each of her/his children will also carry a mutation.

Answer 4

TRUE

Question 5

Positive predictive value is the chance the a patient with a positive screening result will be diagnosed with the condition.

Answer 5

TRUE

Question 6

The Foresight Carrier Screen is performed using heteroduplex analysis and Sanger sequencing.

Answer 6

FALSE (full-exon sequencing and panel-wide deletion)

Question 7

The At Risk Couple (ARC) rate is the percentage of couples tested where each are found to carry mutations in the same gene but where there is not a risk of having an affected child.

Answer 7

FALSE (they are at risk to have an affected child)

Question 8

Screening tests identify whether individuals are at increased risk for condition, while diagnostic tests determine whether the condition is present or absent.

Answer 8

TRUE

Question 9

The term “residual risk” describes the chance a patient is not a carrier for a condition, when test results are negative.

Answer 9

FALSE?????

Question 10

When both parents carry a mutation in the same gene associated with an autosomal recessive condition, each pregnancy has a 25% (1/4) chance of being affected.

Answer 10

TRUE

Question 11

A SNP association found in a specific population can be generalized to all populations.

Answer 11

FALSE

Question 12

The Foresight Universal panel was designed by selecting diseases which met criteria for severity, actionability, prevalence, and sensitivity.

Answer 12

TRUE

Question 13

Detection rate is the percentage of known mutation carriers that a test can identify.

Answer 13

Detection rate is the percentage of known mutation carriers that a test can identify.

Question 14

The higher the detection rate provided by a screening test, the higher the residual risk after a negative result.

Answer 14

FALSE (The higher the detection rate provided by a screening test, the LOWER the residual risk after a negative result.)

Question 15

Aneuploidy is the term used to describe a karyotype with the correct number of chromosomes.

Answer 15

FALSE

Question 16

A copy number variant (CNV) is a type of variation in the DNA in which sections are repeated, with the number of repeats being the same among all individuals.

Answer 16

FALSE