Baseline Test

Question 1

T/F

Down syndrome is caused by an extra copy of chromosome 21.

Answer 1

True

Question 2

T/F
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 2

True

Question 3

T/F
Preimplantation genetic diagnosis (PGD) involves the testing of embryos for known genetic mutations, prior to transfer of those embryos to the uterus.

Answer 3

True

Question 4

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

Answer 4

False

Question 5

T/F
After receiving positive Non-Invasive Pregnancy Screen (NIPS) results, the patient is not a good candidate for additional diagnostic testing, such as Chorionic Villus Sampling (CVS) or amniocentesis.

Answer 5

False

Question 6

T/F

SNPs are always associated with an increased or decreased risk of developing a certain disease.

Answer 6

False

SNPs may or may not be associated with an increased risk of developing a certain disease.

Question 7

T/F

A provider following current ACOG guidelines must offer expanded carrier screening to her patients.

Answer 7

False

Question 8

T/F
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

T/F
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 9

False

Question 10

T/F

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

Answer 10

False
This statement is incorrect. The Foresight Carrier Screen is performed using full-exon sequencing and panel-wide deletion calling.

Question 11

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

Answer 11

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

Question 12

T/F
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 12

True

Question 13

T/F
A “no-call” NIPS requires no additional follow-up by the provider and has not been associated with an increase in patient anxiety.

Answer 13

False

Question 14

T/F
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 14

True

Question 15

T/F

There are 35 genes on the myRisk hereditary cancer panel.

Answer 15

True

Question 16

T/F

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

Answer 16

True

Question 17

T/F

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

Answer 17

True

Question 18

T/F

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

Answer 18

False

Question 19

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

Answer 19

True

Question 20

T/F

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

Answer 20

True

Question 21

T/F

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

Answer 21

False

Question 22

T/F

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

Answer 22

False

Question 23

T/F
Del/Dup stands for deletion/duplication, which is change in the DNA sequence resulting in missing (deleted) or additional (duplication) genetic information.

Answer 23

True

Question 24

T/F
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 24

False

Question 25

T/F
Myriad myRisk identifies elevated cancer risk for six different cancers by analyzing multiple, clinically significant genes.

Answer 25

False