1. TRUE/FALSE?
A. A karyotype can be done on an extracted DNA sample

1. TRUE/FALSE?
B. A karyotype can usually detect chromosomal deletions or duplications of 1-5Mb in size

1. TRUE/FALSE?
C. A karyotype can detect both balanced and unbalanced translocations

1. TRUE/FALSE?
D. A normal karyotype excludes all balanced translocations

1. TRUE/FALSE?
E. A positive targeted FISH test confirms size of deleted region

2. TRUE/FALSE?
A. CMA can detect large triplet repeat expansions

2. TRUE/FALSE?
B. CMA is a first line test for a child with dysmorphism + developmental delay

2. TRUE/FALSE?
C. Although the interpretation may be uncertain, a VOUS is a definite abnormality

2. TRUE/FALSE?
D. A CMA is usually abnormal in a child with Noonan syndrome

3. TRUE/FALSE?
A. “Genetic heterogeneity” refers to different mutations within the one gene (e.g. >1000
known mutations in CF gene)

3. TRUE/FALSE?
B. Targeted testing for Fragile X is a first line test for DD/ID/ASD, preceding other gene testing

3. TRUE/FALSE?
C. “Clinical utility” of a gene test does not include impact on family planning

3. TRUE/FALSE?
D. Cost of testing is not a major issue for doctors practising in the public health system

4. TRUE/FALSE?
A. The “clinical exome” includes all 20,000 known genes, but not non-coding DNA

4. TRUE/FALSE?
B. WES/WGS finds fewer VOUS than chromosome microarray

4. TRUE/FALSE?
C. In cohort of children with ID/dysmorphism, with no family history, and unrelated parents, the majority of disorders diagnosed by WES are de novo AD

4. TRUE/FALSE?
D. If WES is not diagnostic, WGS will be.

4. TRUE/FALSE?
E. Patients having WES/WGS must be informed about all secondary/incidental findings